ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1940_1943delinsTTTA (p.Cys647_Ser648delinsPheTer)

dbSNP: rs1555282370
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544135 SCV000635193 pathogenic Hereditary breast ovarian cancer syndrome 2017-08-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with BRCA2-related disease. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This sequence change deletes 4 nucleotides and inserts 4 different nucleotides in exon 11 of the BRCA2 mRNA (c.1940_1943delinsTTTA). This creates a premature translational stop signal at codon 468 (p.Cys647_Ser648delinsPhe*) and is expected to result in an absent or disrupted protein product.

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