ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.2149G>A (p.Ala717Thr)

gnomAD frequency: 0.00095  dbSNP: rs17882190
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000419889 SCV000511485 likely benign not provided 2016-09-01 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000419889 SCV000640375 likely benign not provided 2023-12-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000121083 SCV000708524 likely benign not specified 2017-05-12 criteria provided, single submitter clinical testing
GeneDx RCV000419889 SCV001857296 benign not provided 2019-12-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23900974)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000121083 SCV004030044 likely benign not specified 2023-07-12 criteria provided, single submitter clinical testing Variant summary: FGFR3 c.2149G>A (p.Ala717Thr) results in a non-conservative amino acid change located in the Protein kinase domain (IPR000719) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00024 in 249802 control chromosomes, predominantly at a frequency of 0.0031 within the African or African-American subpopulation in the gnomAD databaset, suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. To our knowledge, no occurrence of c.2149G>A in individuals affected with Achondroplasia and no experimental evidence demonstrating its impact on protein function have been reported. Four submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
PreventionGenetics, part of Exact Sciences RCV003935156 SCV004753015 likely benign FGFR3-related condition 2019-04-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ITMI RCV000121083 SCV000085251 not provided not specified 2013-09-19 no assertion provided reference population

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