ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.951C>A (p.Ser317=)

gnomAD frequency: 0.00001  dbSNP: rs755298519
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780968 SCV000918666 benign not specified 2017-11-27 criteria provided, single submitter clinical testing Variant summary: The BRAF c.951C>A (p.Ser317Ser) variant involves the alteration of a conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 16/246238 control chromosomes (gnomAD) at a frequency of 0.000065, which is approximately 26 times the estimated maximal expected allele frequency of a pathogenic BRAF variant (0.0000025), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen RCV001815435 SCV002063159 likely benign not provided 2021-11-01 criteria provided, single submitter clinical testing
Invitae RCV002067375 SCV002336904 likely benign RASopathy 2024-01-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965578 SCV004778334 likely benign BRAF-related condition 2022-03-20 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).

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