ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.2128-16delinsTCT

dbSNP: rs1796250484
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Total submissions: 1
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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 RCV001280678 SCV001467976 benign not specified 2020-12-22 criteria provided, single submitter clinical testing Variant summary: BRAF c.2128-16delinsTCT alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 159536 control chromosomes (gnomAD), however the variant is located to a highly polymorphic poly-T region, where several similar variants occur with a high allele frequency, suggesting that this variant could be a benign polymorphism. To our knowledge, no occurrence of c.2128-16delinsTCT in individuals affected with Cardiofaciocutaneous Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign.

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