ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3076_3077del (p.Lys1026fs)

dbSNP: rs1057517566
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409605 SCV000488613 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-05-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588007 SCV000694665 likely pathogenic Hereditary breast ovarian cancer syndrome 2015-11-20 criteria provided, single submitter clinical testing Variant summary: The variant of interest causes a frameshift/truncating mutation and is predicted to have a "disease-causing" outcome by mutation taster. The variant is absent from the large and broad cohorts of the NHLBI-ES and ExAC projects and, to our knowledge, has not been reported in HBOC spectrum patients either. In vivo/vitro studies to describe the functional impact of the variant have not been published at the time of scoring. Variants overlapping with the variant of interest e.g. c.3076A>T p.Lys1026X (ARUP, BIC), p.3075_3076 delinsTT p.Lys1025AsnTer (UMD, ClinVar) have been reported in HBOC patients indicating that the variant of interest is located in a mutation hotspot. The variant of interest shows evidence for pathogenicity: it is a frameshift/truncating mutation and is absent from controls (ESP, ExAC), it is located in a mutational hotspot. Therefore it was classified as a Likely Pathogenic.

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