ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.2136C>T (p.Ala712=) (rs377165711)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037945 SCV000061610 likely benign not specified 2012-04-06 criteria provided, single submitter clinical testing p.Ala712Ala in Exon 18 of BRAF: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence. It has been identified in 1/7020 European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS;).
Integrated Genetics/Laboratory Corporation of America RCV000587057 SCV000698337 benign not provided 2016-12-12 criteria provided, single submitter clinical testing Variant summary: The BRAF c.2136C>T (p.Ala712Ala) 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 7/120766 control chromosomes, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.0001054 (7/66430). This frequency is about 42 times the estimated maximal expected allele frequency of a pathogenic BRAF variant (0.0000025), suggesting this is likely a benign polymorphism found primarily in the populations of European (Non-Finnish) origin. In addition, one clinical diagnostic laboratory/reputable database classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.

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