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Gene Symbol PTEN
Synonyms 10q23del | BZS | CWS1 | DEC | GLM2 | MHAM | MMAC1 | PTEN1 | PTENbeta | TEP1
Gene Description PTEN, phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN, is a tumor suppressor (PMID: 30562755) with roles in the cell cycle, growth, DNA repair, cell survival and regulation of the Akt-mTOR pathway (PMID: 24656806, PMID: 30145641). PTEN germline mutations are common in Cowden syndrome (PMID: 30562755) and PTEN somatic alterations resulting in loss of function have been found in many types of cancer including, but not limited to endometrial (PMID: 30142194), melanoma (PMID: 30148988), and prostate (PMID: 18767981, PMID: 30153654).
ACMG Incidental List v3.0:
Yes, PTEN hamartoma tumor syndrome (PMID: 34012068)
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
5728 10 10q23.31 NM_000314 Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
fusion fusion unknown PTEN fusion indicates a fusion of the PTEN gene, but the fusion partner is unknown.
inact mut unknown loss of function PTEN inact mut indicates that this variant results in a loss of function of the Pten protein. However, the specific amino acid change has not been identified.
mutant unknown unknown PTEN mutant indicates an unspecified mutation in the PTEN gene.
A126fs frameshift loss of function - predicted PTEN A126fs results in a change in the amino acid sequence of the Pten protein beginning at 126 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). A126fs has not been characterized, however, due to the effects of other truncation mutations downstream of A126 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
A72fs frameshift loss of function - predicted PTEN A72fs results in a change in the amino acid sequence of the Pten protein beginning at aa 72 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). A72fs results in lack of protein expression in culture (PMID: 21358673), and due to the effects of other truncation mutations downstream of A72 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
C124fs frameshift loss of function - predicted PTEN C124fs results in a change in the amino acid sequence of the Pten protein beginning at 124 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). C124fs has not been characterized, however, due to the effects of other truncation mutations downstream of C124 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
C250fs frameshift loss of function - predicted PTEN C250fs results in a change in the amino acid sequence of the Pten protein beginning at 250 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). C250fs has not been characterized, however, due to the effects of other truncation mutations downstream of C250 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
D109fs frameshift loss of function - predicted PTEN D109fs results in a change in the amino acid sequence of the Pten protein beginning at aa 109 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). D109fs has not been characterized, however, due to the effects of other truncation mutations downstream of D109 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
D116fs frameshift loss of function - predicted PTEN D116fs results in a change in the amino acid sequence of the Pten protein beginning at 116 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). D116fs has not been characterized, however, due to the effects of other truncation mutations downstream of D116 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
D331fs frameshift loss of function - predicted PTEN D331fs results in a change in the amino acid sequence of the Pten protein beginning at 331 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). D331fs has not been characterized, however, due to the effects of other truncation mutations downstream of D331 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
E242fs frameshift loss of function - predicted PTEN E242fs results in a change in the amino acid sequence of the Pten protein beginning at 242 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). E242fs has not been characterized, however, due to the effects of other truncation mutations downstream of E242 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
E284fs frameshift loss of function - predicted PTEN E284fs results in a change in the amino acid sequence of the Pten protein beginning at aa 284 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). E284fs has not been characterized, however, due to the effects of other truncation mutations downstream of E284 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
E288fs frameshift loss of function - predicted PTEN E288fs results in a change in the amino acid sequence of the Pten protein beginning at aa 288 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). E288fs has not been characterized, however, due to the effects of other truncation mutations downstream of E288 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
F241fs frameshift loss of function - predicted PTEN F241fs results in a change in the amino acid sequence of the Pten protein beginning at 241 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). F241fs has not been characterized, however, due to the effects of other truncation mutations downstream of F241 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
F337fs frameshift loss of function - predicted PTEN F337fs results in a change in the amino acid sequence of the Pten protein beginning at 337 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). F337fs has not been characterized, however, due to the effects of other truncation mutations downstream of F337 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
F56fs frameshift loss of function - predicted PTEN F56fs results in a change in the amino acid sequence of the Pten protein beginning at aa 56 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). F56fs has not been characterized, however, due to the effects of other truncation mutations downstream of F56 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
G143fs frameshift loss of function - predicted PTEN G143fs results in a change in the amino acid sequence of the Pten protein beginning at 143 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). G143fs has not been characterized, however, due to the effects of other truncation mutations downstream of G143 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
G293fs frameshift loss of function - predicted PTEN G293fs results in a change in the amino acid sequence of the Pten protein beginning at 293 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). G293fs has not been characterized, however, due to the effects of other truncation mutations downstream of G293 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
H118fs frameshift loss of function - predicted PTEN H118fs results in a change in the amino acid sequence of the Pten protein beginning at 118 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). H118fs has not been characterized, however, due to the effects of other truncation mutations downstream of H118 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
I122fs frameshift loss of function - predicted PTEN I122fs results in a change in the amino acid sequence of the Pten protein beginning at 122 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). I122fs has not been characterized, however, due to the effects of other truncation mutations downstream of I122 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
K102fs frameshift loss of function - predicted PTEN K102fs results in a change in the amino acid sequence of the Pten protein beginning at aa 102 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). K102fs has not been characterized, however, due to the effects of other truncation mutations downstream of K102 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
K163fs frameshift loss of function - predicted PTEN K163fs results in a change in the amino acid sequence of the Pten protein beginning at aa 163 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). K163fs has not been characterized, however, due to the effects of other truncation mutations downstream of K163 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
K237fs frameshift loss of function - predicted PTEN K237fs results in a change in the amino acid sequence of the Pten protein beginning at 237 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). K237fs has not been characterized, however, due to the effects of other truncation mutations downstream of K237 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
K254fs frameshift loss of function - predicted PTEN K254fs results in a change in the amino acid sequence of the Pten protein beginning at 254 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). K254fs has not been characterized, however, due to the effects of other truncation mutations downstream of K254 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
K260fs frameshift loss of function - predicted PTEN K260fs results in a change in the amino acid sequence of the Pten protein beginning at 260 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). K260fs has not been characterized, however, due to the effects of other truncation mutations downstream of K260 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
K267fs frameshift loss of function - predicted PTEN K267fs results in a change in the amino acid sequence of the Pten protein beginning at aa 267 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). K267fs has not been characterized, however, due to the effects of other truncation mutations downstream of K267 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
K60fs frameshift loss of function - predicted PTEN K60fs results in a change in the amino acid sequence of the Pten protein beginning at aa 60 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). K60fs has not been characterized, however, due to the effects of other truncation mutations downstream of K60 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
K66fs frameshift loss of function - predicted PTEN K66fs results in a change in the amino acid sequence of the Pten protein beginning at aa 66 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). K66fs has not been characterized, however, due to the effects of other truncation mutations downstream of K66 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
K6fs frameshift loss of function - predicted PTEN K6fs results in a change in the amino acid sequence of the Pten protein beginning at aa 6 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). K6fs has not been characterized, however, due to the effects of other truncation mutations downstream of K6 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
L182fs frameshift loss of function - predicted PTEN L182fs results in a change in the amino acid sequence of the Pten protein beginning at aa 182 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). L182fs has not been characterized, however, due to the effects of other truncation mutations downstream of L182 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
L193fs frameshift loss of function - predicted PTEN L193fs results in a change in the amino acid sequence of the Pten protein beginning at aa 193 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). L193fs has not been characterized, however, due to the effects of other truncation mutations downstream of L193 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
L265fs frameshift loss of function - predicted PTEN L265fs results in a change in the amino acid sequence of the Pten protein beginning at aa 265 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). L265fs has not been characterized, however, due to the effects of other truncation mutations downstream of L265 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
L318fs frameshift loss of function - predicted PTEN L318fs results in a change in the amino acid sequence of the Pten protein beginning at aa 318 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). L318fs has not been characterized, however, due to the effects of other truncation mutations downstream of L318 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
L57fs frameshift loss of function - predicted PTEN L57fs results in a change in the amino acid sequence of the Pten protein beginning at aa 57 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). L57fs has not been characterized, however, due to the effects of other truncation mutations downstream of L57 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
L70fs frameshift loss of function - predicted PTEN L70fs results in a change in the amino acid sequence of the Pten protein beginning at aa 70 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). L70fs has not been characterized, however, due to the effects of other truncation mutations downstream of L70 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
N117fs frameshift loss of function - predicted PTEN N117fs results in a change in the amino acid sequence of the Pten protein beginning at 117 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). N117fs has not been characterized, however, due to the effects of other truncation mutations downstream of N117 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
N292fs frameshift loss of function - predicted PTEN N292fs results in a change in the amino acid sequence of the Pten protein beginning at aa 292 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). N292fs has not been characterized, however, due to the effects of other truncation mutations downstream of N292 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
N323fs frameshift loss of function - predicted PTEN N323fs results in a change in the amino acid sequence of the Pten protein beginning at aa 323 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). N323fs has not been characterized, however, due to the effects of other truncation mutations downstream of N323 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
N329fs frameshift loss of function - predicted PTEN N329fs results in a change in the amino acid sequence of the Pten protein beginning at aa 329 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). N329fs has not been characterized, however, due to the effects of other truncation mutations downstream of N329 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
N340fs frameshift loss of function - predicted PTEN N340fs results in a change in the amino acid sequence of the Pten protein beginning at aa 340 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). N340fs has not been characterized, however, due to the effects of other truncation mutations downstream of N340 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
N63fs frameshift loss of function - predicted PTEN N63fs results in a change in the amino acid sequence of the Pten protein beginning at aa 63 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). N63fs has not been characterized, however, due to the effects of other truncation mutations downstream of N63 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
P246fs frameshift loss of function - predicted PTEN P246fs results in a change in the amino acid sequence of the Pten protein beginning at aa 246 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). P246fs has not been characterized, however, due to the effects of other truncation mutations downstream of P246 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
P248fs frameshift loss of function - predicted PTEN P248fs results in a change in the amino acid sequence of the Pten protein beginning at aa 248 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). P248fs has not been characterized, however, due to the effects of other truncation mutations downstream of P248 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
Q298fs frameshift loss of function - predicted PTEN Q298fs results in a change in the amino acid sequence of the Pten protein beginning at aa 298 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). Q298fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q298 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
R130fs frameshift loss of function - predicted PTEN R130fs results in a change in the amino acid sequence of the Pten protein beginning at aa 130 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). R130fs has not been characterized, however, due to the effects of other truncation mutations downstream of R130 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
R14fs frameshift loss of function - predicted PTEN R14fs results in a change in the amino acid sequence of the Pten protein beginning at aa 14 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). R14fs has not been characterized, however, due to the effects of other truncation mutations downstream of R14 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
R173fs frameshift loss of function - predicted PTEN R173fs results in a change in the amino acid sequence of the Pten protein beginning at aa 173 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). R173fs has not been characterized, however, due to the effects of other truncation mutations downstream of R173 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
R55fs frameshift loss of function - predicted PTEN R55fs results in a change in the amino acid sequence of the Pten protein beginning at aa 55 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). R55fs has not been characterized, however, due to the effects of other truncation mutations downstream of R55 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
S294fs frameshift loss of function - predicted PTEN S294fs results in a change in the amino acid sequence of the Pten protein beginning at aa 294 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). S294fs has not been characterized, however, due to the effects of other truncation mutations downstream of S294 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
S338fs frameshift loss of function - predicted PTEN S338fs results in a change in the amino acid sequence of the Pten protein beginning at 338 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). S338fs has not been characterized, however, due to the effects of other truncation mutations downstream of S338 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
T131fs frameshift loss of function - predicted PTEN T131fs results in a change in the amino acid sequence of the Pten protein beginning at aa 131 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). T131fs has not been characterized, however, due to the effects of other truncation mutations downstream of T131 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
T319fs frameshift loss of function - predicted PTEN T319fs results in a change in the amino acid sequence of the Pten protein beginning at aa 319 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). T319fs has not been characterized, however, due to the effects of other truncation mutations downstream of T319 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
T321fs frameshift loss of function - predicted PTEN T321fs results in a change in the amino acid sequence of the PTEN protein beginning at aa 321 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). T321fs has not been characterized, however, due to the effects of other truncation mutations downstream of T321 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
V119fs frameshift loss of function - predicted PTEN V119fs results in a change in the amino acid sequence of the PTEN protein beginning at aa 119 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). V119fs has not been characterized, however, due to the effects of other truncation mutations downstream of V119 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
V158fs frameshift loss of function - predicted PTEN V158fs results in a change in the amino acid sequence of the Pten protein beginning at aa 158 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). V158fs has not been characterized, however, due to the effects of other truncation mutations downstream of V158 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
V217fs frameshift loss of function - predicted PTEN V217fs results in a change in the amino acid sequence of the Pten protein beginning at aa 217 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). V217fs has not been characterized, however, due to the effects of other truncation mutations downstream of V217 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
V290fs frameshift loss of function - predicted PTEN V290fs results in a change in the amino acid sequence of the PTEN protein beginning at aa 290 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). V290fs has not been characterized, however, due to the effects of other truncation mutations downstream of V290 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
V317fs frameshift loss of function - predicted PTEN V317fs results in a change in the amino acid sequence of the Pten protein beginning at aa 317 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). V317fs has not been characterized, however, due to the effects of other truncation mutations downstream of V317 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
V54fs frameshift loss of function - predicted PTEN V54fs results in a change in the amino acid sequence of the Pten protein beginning at aa 54 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). V54fs has not been characterized, however, due to the effects of other truncation mutations downstream of V54 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
W111fs frameshift loss of function - predicted PTEN W111fs results in a change in the amino acid sequence of the Pten protein beginning at 111 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). W111fs has not been characterized, however, due to the effects of other truncation mutations downstream of W111 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
W274fs frameshift loss of function - predicted PTEN W274fs results in a change in the amino acid sequence of the Pten protein beginning at aa 274 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). W274fs has not been characterized, however, due to the effects of other truncation mutations downstream of W274 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
Y155fs frameshift loss of function - predicted PTEN Y155fs results in a change in the amino acid sequence of the Pten protein beginning at aa 155 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). Y155fs has not been characterized, however, due to the effects of other truncation mutations downstream of Y155 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
Y16fs frameshift loss of function - predicted PTEN Y16fs results in a change in the amino acid sequence of the Pten protein beginning at aa 16 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). Y16fs has not been characterized, however, due to the effects of other truncation mutations downstream of Y16 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
Y27fs frameshift loss of function - predicted PTEN Y27fs results in a change in the amino acid sequence of the PTEN protein beginning at aa 27 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). Y27fs has not been characterized, however, due to the effects of other truncation mutations downstream of Y27 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
Y68fs frameshift loss of function - predicted PTEN Y68fs results in a change in the amino acid sequence of the PTEN protein beginning at aa 68 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). Y68fs has not been characterized, however, due to the effects of other truncation mutations downstream of Y68 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
Y76fs frameshift loss of function - predicted PTEN Y76fs results in a change in the amino acid sequence of the Pten protein beginning at aa 76 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). Y76fs has not been characterized, however, due to the effects of other truncation mutations downstream of Y76 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.