ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1841_1842dup (p.Asn615fs)

dbSNP: rs80359312
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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 RCV000781041 SCV000918815 likely pathogenic Hereditary breast ovarian cancer syndrome 2018-01-29 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.1841_1842dupTT (p.Asn615LeufsX30) results in a frame-shift that creates a premature termination codon downstream of the affected nucleotides, and is predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (eg. c.1855C>T (p.Gln619X), c.1888dupA (p.Thr630fsX6), c.1889delC (p.Thr630fsX14). The variant was absent in 237310 control chromosomes in gnomAD. To our knowledge, no occurrence of c.1841_1842dupTT in individuals affected with Hereditary Breast and Ovarian Cancer 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 likely pathogenic.

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