ClinVar Miner

Submissions for variant NM_000141.4(FGFR2):c.1645A>C (p.Asn549His) (rs1057519045)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Database of Curated Mutations (DoCM) RCV000432507 SCV000505190 likely pathogenic Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation 2014-12-26 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425472 SCV000506403 likely pathogenic Nasopharyngeal Neoplasms 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000435736 SCV000506404 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000418082 SCV000506405 likely pathogenic Neoplasm of the breast 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428300 SCV000506406 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000415507 SCV000328401 likely pathogenic Crouzon syndrome 2016-09-17 criteria provided, single submitter clinical testing
OSU Cancer Genomics Laboratory, Ohio State University Medical Center RCV000786040 SCV000914229 drug response Pemigatinib resistance 2019-05-17 no assertion criteria provided research The Asn549His variant in FGFR2 was detected following 5 months of Pemigatinib therapy. In vitro functional studies also showed resistance to Pemigatinib.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.