ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.111G>A (p.Ser37=)

dbSNP: rs727502906
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000519506 SCV000616395 likely benign RASopathy 2017-04-03 reviewed by expert panel curation The c.111G>A (p.Ser37=) variant in BRAF is a synonymous (silent) variant at a nucleotide that is not highly conserved and is not predicted to impact splicing (BP7). This variant has been identified in a patient with an alternate molecular basis for disease (BP5; Partners LMM, GeneDx internal data, GTR ID's: SCV000197179.4, SCV000512270.5). In summary, this variant meets criteria to be classified as likely benign. RASopathy-specific ACMG/AMP criteria applied (PMID:29493581): BP7, BP5.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150216 SCV000197179 likely benign not specified 2014-03-07 criteria provided, single submitter clinical testing Ser37Ser in exon 1 of BRAF: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and it is not located wit hin the splice consensus sequence.
GeneDx RCV000157665 SCV000512270 likely benign not provided 2021-04-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000150216 SCV001337707 likely benign not specified 2020-01-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000519506 SCV002201088 likely benign RASopathy 2023-10-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433643 SCV002749693 likely benign Cardiovascular phenotype 2022-08-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000157665 SCV000207630 uncertain significance not provided 2015-01-15 no assertion criteria provided clinical testing

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