Gene Variant Detail

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Gene STAG2
Variant N357fs
Impact List frameshift
Protein Effect loss of function
Gene Variant Descriptions STAG2 N357fs results in a change in the amino acid sequence of the Stag2 protein beginning at aa 357 of 1231, likely resulting in premature truncation of the functional protein (UniProt.org). N357fs results in a loss of Stag2 protein expression and defective sister chromatid cohesion and is associated with chromosomal instability in cell culture (PMID: 21852505).
Associated Drug Resistance

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Transcript NM_001282418
gDNA chrX:g.(124051171_124051172)
cDNA c.(1069_1068)
Protein p.N357fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001042750 chrX:g.(124051171_124051172) c.(1069_1068) p.N357fs RefSeq GRCh38/hg38
XM_005262357 chrX:g.(124051171_124051172) c.(1069_1068) p.N357fs RefSeq GRCh38/hg38
NM_001042749 chrX:g.(124051171_124051172) c.(1069_1068) p.N357fs RefSeq GRCh38/hg38
NM_001042751 chrX:g.(124051171_124051172) c.(1069_1068) p.N357fs RefSeq GRCh38/hg38
XM_005262361 chrX:g.(124051171_124051172) c.(1069_1068) p.N357fs RefSeq GRCh38/hg38
NM_001282418 chrX:g.(124051171_124051172) c.(1069_1068) p.N357fs RefSeq GRCh38/hg38
XM_017029232 chrX:g.(124051171_124051172) c.(1069_1068) p.N357fs RefSeq GRCh38/hg38
XM_005262360 chrX:g.(124051171_124051172) c.(1069_1068) p.N357fs RefSeq GRCh38/hg38
NM_006603 chrX:g.(124051171_124051172) c.(1069_1068) p.N357fs RefSeq GRCh38/hg38
XM_005262358 chrX:g.(124051171_124051172) c.(1069_1068) p.N357fs RefSeq GRCh38/hg38
XM_017029233 chrX:g.(124051171_124051172) c.(1069_1068) p.N357fs RefSeq GRCh38/hg38
XM_005262359 chrX:g.(124051171_124051172) c.(1069_1068) p.N357fs RefSeq GRCh38/hg38
XM_011531253 chrX:g.(124051171_124051172) c.(1069_1068) p.N357fs RefSeq GRCh38/hg38
XM_017029234 chrX:g.(124051171_124051172) c.(1069_1068) p.N357fs RefSeq GRCh38/hg38
XM_006724727 chrX:g.(124051171_124051172) c.(1069_1068) p.N357fs RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
STAG2 N357fs glioblastoma multiforme sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, a glioblastoma cell line harboring a STAG2 mutation (reported as STAG2 N357fs, PMID: 21852505) demonstrated increased sensitivity to treatment with Lynparza (olaparib) in culture, resulting in decreased proliferation and colony formation, and increased DNA damage compared to isogenic cells with wild-type STAG2 (PMID: 24356817). 21852505 24356817
STAG2 N357fs glioblastoma multiforme sensitive Rucaparib Preclinical - Cell culture Actionable In a preclinical study, a glioblastoma cell line harboring a STAG2 mutation (reported as STAG2 N357fs, PMID: 21852505), demonstrated increased sensitivity to treatment with Rubraca (rucaparib) in culture compared to isogenic cells with wild-type STAG2 (PMID: 24356817). 21852505 24356817
STAG2 N357fs glioblastoma multiforme sensitive Camptothecin + Olaparib Preclinical - Cell culture Actionable In a preclinical study, glioblastoma cells harboring a STAG2 mutation (reported as STAG2 N357fs, PMID: 21852505) demonstrated increased sensitivity to the combination of Lynparza (olaparib) and camptothecin compared to isogenic cells with wild-type STAG2 in culture (PMID: 24356817). 21852505 24356817
STAG2 N357fs glioblastoma multiforme sensitive Olaparib + Temozolomide Preclinical - Cell culture Actionable In a preclinical study, glioblastoma cells harboring a STAG2 mutation (reported as STAG2 N357fs, PMID: 21852505) demonstrated increased sensitivity to the combination of Lynparza (olaparib) and Temodar (temozolomide) compared to isogenic cells with wild-type STAG2 in culture (PMID: 24356817). 21852505 24356817
STAG2 N357fs glioblastoma multiforme sensitive Veliparib Preclinical - Cell culture Actionable In a preclinical study, a glioblastoma cell line harboring a STAG2 mutation (reported as STAG2 N357fs, PMID: 21852505) demonstrated increased sensitivity to treatment with Veliparib (ABT-888) in culture compared to isogenic cells with wild-type STAG2 (PMID: 24356817). 21852505 24356817
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
STAG2 mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic STAG2 mutations are associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
Molecular Profile Protein Effect Treatment Approaches
STAG2 N357fs loss of function