ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.739C>A (p.Gln247Lys)

gnomAD frequency: 0.00103  dbSNP: rs145613634
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500656 SCV000594706 uncertain significance not specified 2016-03-16 criteria provided, single submitter clinical testing
Invitae RCV000630991 SCV000751968 likely benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV001294012 SCV001482765 uncertain significance Fanconi anemia complementation group G 2020-01-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001597147 SCV001830535 likely benign not provided 2019-05-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28678401)
Sema4, Sema4 RCV000630991 SCV002537557 uncertain significance Fanconi anemia 2021-07-26 criteria provided, single submitter curation
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001294012 SCV003843130 uncertain significance Fanconi anemia complementation group G 2022-10-26 criteria provided, single submitter clinical testing The FANCG c.739C>A (p.Gln247Lys) missense change has a maximum subpopulation frequency of 0.36% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. This variant has been reported as heterozygous in at least one individual with a head or neck squamous cell carcinoma (PMID: 28678401). To our knowledge, this variant has not been reported in individuals with Fanconi anemia. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
Natera, Inc. RCV001294012 SCV002077464 likely benign Fanconi anemia complementation group G 2020-02-11 no assertion criteria provided clinical testing

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