Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene FGFR2
Variant H167_N173del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 H167_N173del results in the deletion of seven amino acids in the Ig-like C2-type domain 2 of the Fgfr2 protein from amino acids 167 to 173 (UniProt.org). H167_N173del is transforming in cell culture (J Clin Oncol 38, 2020 (suppl 4; abstr 567) and therefore, is predicted to lead to a gain of Fgfr2 protein function.
Associated Drug Resistance

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Transcript NM_000141
gDNA chr10:g.121551396_121551416del21
cDNA c.499_519del21
Protein p.H167_N173delHAVPAAN
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017015923 chr10:g.121538611_121538631del21 c.502_522del21 p.G168_Y174delGSINHTY RefSeq GRCh38/hg38
XM_017015925 chr10:g.121520113_121520133del21 c.499_519del21 p.P167_V173delPANASTV RefSeq GRCh38/hg38
NM_001320658 chr10:g.121551396_121551416del21 c.499_519del21 p.H167_N173delHAVPAAN RefSeq GRCh38/hg38
XM_006717708 chr10:g.121551452_121564514del13063 c.499_519del13063 p.S167_P173delSNNKRAP RefSeq GRCh38/hg38
XM_006717712 chr10:g.121520113_121520133del21 c.499_519del21 p.P167_V173delPANASTV RefSeq GRCh38/hg38
NM_001144915 chr10:g.121520133_121520153del21 c.501_521del21 p.I168_P174delILQAGLP RefSeq GRCh38/hg38
XM_017015921 chr10:g.121551452_121564514del13063 c.499_519del13063 p.S167_P173delSNNKRAP RefSeq GRCh38/hg38
NM_022970 chr10:g.121551396_121551416del21 c.499_519del21 p.H167_N173delHAVPAAN RefSeq GRCh38/hg38
NM_001144916 chr10:g.121520055_121520075del21 c.499_519del21 p.S167_I173delSDAQPHI RefSeq GRCh38/hg38
XM_017015924 chr10:g.121520113_121520133del21 c.499_519del21 p.P167_V173delPANASTV RefSeq GRCh38/hg38
NM_001144918 chr10:g.121520055_121520075del21 c.499_519del21 p.S167_I173delSDAQPHI RefSeq GRCh38/hg38
NM_001144919 chr10:g.121520133_121520153del21 c.501_521del21 p.I168_P174delILQAGLP RefSeq GRCh38/hg38
XM_017015920 chr10:g.121551452_121564514del13063 c.499_519del13063 p.S167_P173delSNNKRAP RefSeq GRCh38/hg38
NM_001144917 chr10:g.121551396_121551416del21 c.499_519del21 p.H167_N173delHAVPAAN RefSeq GRCh38/hg38
XM_006717711 chr10:g.121538611_121538631del21 c.502_522del21 p.G168_Y174delGSINHTY RefSeq GRCh38/hg38
NM_000141 chr10:g.121551396_121551416del21 c.499_519del21 p.H167_N173delHAVPAAN RefSeq GRCh38/hg38
NM_001144914 chr10:g.121551396_121551416del21 c.499_519del21 p.H167_N173delHAVPAAN RefSeq GRCh38/hg38
NM_001144913 chr10:g.121551396_121551416del21 c.499_519del21 p.H167_N173delHAVPAAN RefSeq GRCh38/hg38
XM_006717710 chr10:g.121551452_121564514del13063 c.499_519del13063 p.S167_P173delSNNKRAP RefSeq GRCh38/hg38
NM_023029 chr10:g.121520133_121520153del21 c.501_521del21 p.I168_P174delILQAGLP RefSeq GRCh38/hg38
XM_017015922 chr10:g.121538611_121538631del21 c.502_522del21 p.G168_Y174delGSINHTY RefSeq GRCh38/hg38
NM_001320654 chr10:g.121515201_121515221del21 c.499_519del21 p.V167_K173delVILCRMK RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 H167_N173del intrahepatic cholangiocarcinoma predicted - sensitive Debio 1347 Case Reports/Case Series Actionable In a clinical study, Debio 1347 treatment resulted in durable partial response of 11 months in 2 patients with intrahepatic cholangiocarcinoma harboring FGFR2 H167_N173del (J Clin Oncol 38, 2020 (suppl 4; abstr 567)). detail...
FGFR2 H167_N173del FGFR2 L617F intrahepatic cholangiocarcinoma predicted - resistant Debio 1347 Case Reports/Case Series Actionable In a clinical study, a patient with intrahepatic cholangiocarcinoma harboring FGFR2 H167_N173del developed resistance to Debio 1347 treatment after initial response, FGFR2 L617F was identified as an acquired mutation at disease progression (J Clin Oncol 38, 2020 (suppl 4; abstr 567)). detail...
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 act mut stomach carcinoma sensitive S-49076 Preclinical - Cell line xenograft Actionable In a preclinical study, S-49076 inhibited Met activation, resulting in growth inhibition of gastric carcinoma cells harboring FGFR2 activating mutations in culture and in cell line xenograft models (PMID: 23804704). 23804704
FGFR2 act mut Advanced Solid Tumor sensitive Dovitinib Preclinical Actionable In a preclinical study, Dovitinib (TKI258) inhibited receptor phosphorylation and cell proliferation in transformed cells expressing constitutively active FGFR2 in culture (PMID: 22238366). 22238366
FGFR2 act mut Advanced Solid Tumor sensitive Debio 1347 Phase I Actionable In a Phase I trial, Debio 1347 (CH5183284) dosing regimen has been determined in solid tumor patients with activating FGFR2 alterations (JCO, Vol 33, No 15_suppl (May 20 Supplement), 2015: 2540). detail...
FGFR2 act mut Advanced Solid Tumor predicted - sensitive Erdafitinib Phase I Actionable In a Phase I trial, Balversa (erdafitinib) treatment resulted in stable disease in 70% (16/23) and partial response in 22% (5/23) of patients with advanced solid tumors harboring FGFR 1-4 activating mutations (including amplifications, mutations and translocations), while no antitumor activity was observed in patients with unknown or no known changes in FGFR (PMID: 26324363; NCT01703481). 26324363
FGFR2 act mut Advanced Solid Tumor decreased response Cediranib Preclinical Actionable In a preclinical study, transformed cells expressing constitutively active FGFR2 demonstrated reduced sensitivity to inhibition of receptor phosphorylation and cell proliferation by Cediranib (AZD-2171) in culture, when compared to other tyrosine kinase inhibitors (PMID: 22238366). 22238366
FGFR2 act mut Advanced Solid Tumor decreased response Brivanib Preclinical Actionable In a preclinical study, transformed cells expressing constitutively active FGFR2 demonstrated reduced sensitivity to inhibition of receptor phosphorylation and cell proliferation by Brivanib (BMS-540215) in culture, when compared to other tyrosine kinase inhibitors (PMID: 22238366). 22238366
FGFR2 act mut Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, Iclusig (ponatinib) inhibited receptor phosphorylation and cell growth in transformed cells expressing constitutively active FGFR2 in culture (PMID: 22238366). 22238366
FGFR2 act mut Advanced Solid Tumor decreased response Nintedanib Preclinical Actionable In a preclinical study, transformed cells expressing constitutively active FGFR2 demonstrated reduced sensitivity to Ofev (Nintedanib) in culture, when compared to other tyrosine kinase inhibitors (PMID: 22238366). 22238366
FGFR2 act mut endometrial cancer sensitive Dovitinib Preclinical - Cell line xenograft Actionable In a preclinical study, both cell lines and cell line xenograft models of endometrial cancer with FGFR2 activating mutations showed greater sensitivity to Dovitinib (TKI258) as compared to FGFR2 wild-type (PMID: 23443805). 23443805
FGFR2 act mut Advanced Solid Tumor predicted - sensitive AZD4547 Phase II Actionable In a Phase II (MATCH) trial, AZD4547 treatment resulted in an overall response rate of 10.5% (2/19) in patients with advanced solid tumors harboring FGFR2 or 3 activating single nucleotide variants and a 6-month progression-free survival rate of 6%, with a partial response in 1 and stable disease in 2 of 12 patients with FGFR2 activating mutations (PMID: 32463741; NCT02465060). 32463741
FGFR2 mutant cholangiocarcinoma predicted - sensitive Erdafitinib Phase I Actionable In a Phase I trial, Balversa (erdafitinib) treatment resulted in an objective response rate of 27% (3/11) in patients with cholangiocarcinoma harboring FGFR genomic alterations, including 1 with FGFR2 mutation, 2 with FGFR3 mutations, and 8 with FGFR2 fusions (PMID: 31088831; NCT01703481). 31088831
FGFR2 mutant transitional cell carcinoma sensitive Erdafitinib FDA approved - Has Companion Diagnostic Actionable In a Phase II trial (BCL2001) that supported FDA approval, Balversa (erdafitinib) treatment resulted in an objective response rate of 40% (40/99, 3 complete response, 37 partial response) and a disease control rate of 80% in patients with metastatic or unresectable urothelial carcinoma harboring FGFR alterations (PMID: 31340094; NCT02365597). detail... 31340094 detail...
FGFR2 mutant transitional cell carcinoma sensitive Erdafitinib Guideline Actionable Balversa (erdafitinib) is included in the guidelines for patients with advanced or metastatic urothelial carcinoma harboring Fgfr2 alterations after progression on platinum-based regimens (NCCN.org). detail...
FGFR2 mutant endometrial cancer sensitive Infigratinib Preclinical Actionable In a preclinical study, Infigratinib (BGJ398) inhibited the growth of FGFR2-mutated endometrial cancer cells in vitro and in xenograft models (PMID: 23443805). 23443805
FGFR2 mutant bladder urothelial carcinoma sensitive Erdafitinib Guideline Actionable Balversa (erdafitinib) is included in the guidelines for patients with advanced or metastatic urothelial carcinoma harboring Fgfr2 alterations after progression on platinum-based regimens (NCCN.org). detail...
FGFR2 mutant bladder urothelial carcinoma sensitive Erdafitinib FDA approved - Has Companion Diagnostic Actionable In a Phase II trial (BCL2001) that supported FDA approval, Balversa (erdafitinib) treatment resulted in an objective response rate of 40% (40/99, 3 complete response, 37 partial response) and a disease control rate of 80% in patients with metastatic or unresectable urothelial carcinoma harboring FGFR alterations (PMID: 31340094; NCT02365597). detail... 31340094 detail...
FGFR2 mutant Advanced Solid Tumor predicted - sensitive Debio 1347 Phase I Actionable In a Phase I trial, Debio 1347 treatment resulted in partial response in 10.5% (6/57) and stable disease in 28.1% (16/57) of patients with advanced solid tumors harboring genomic alterations of FGFR1/2/3, including amplifications, fusions, and mutations (PMID: 30745300; NCT01948297). 30745300
FGFR2 mutant cholangiocarcinoma sensitive Infigratinib Case Reports/Case Series Actionable In a Phase I trial, a patient with cholangiocarcinoma harboring an FGFR2 mutation demonstrated a decreased tumor burden when treated with Infigratinib (BGJ398) (PMID: 27870574). 27870574
FGFR2 mutant Advanced Solid Tumor sensitive Pemigatinib Preclinical - Cell culture Actionable In a preclinical study, a variety of cancer cell lines harboring mutations in FGFR1, FGFR2, and/or FGFR3 demonstrated sensitivity to Pemazyre (pemigatinib) in culture and in cell line xenograft models, resulting in inhibition of tumor growth (Cancer Res 2015;75(15 Suppl):Abstract nr 771). detail...
FGFR2 mutant endometrial cancer sensitive PRN1371 Preclinical - Cell culture Actionable In a preclinical study, PRN1371 inhibited proliferation of endometrial cancer cells harboring FGFR2 mutations in culture (AACR; Cancer Res 2016;76(14 Suppl):Abstract nr 1249). detail...
Molecular Profile Protein Effect Treatment Approaches
FGFR2 H167_N173del gain of function - predicted
FGFR2 H167_N173del FGFR2 L617F