ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4570_4573del (p.Phe1524fs) (rs1057517565)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410419 SCV000488611 likely pathogenic Breast-ovarian cancer, familial 2 2016-05-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781039 SCV000918811 likely pathogenic Hereditary breast and ovarian cancer syndrome 2018-04-23 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.4570_4573delTTTC (p.Phe1524IlefsX18) results in a premature termination codon, 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.4587dupG, p.Lys1530fsX4; c.4631delA, p.Asn1544fsX24; c.4631dupA, p.Asn1544fsX4). The variant was absent in 120602 control chromosomes. c.4570_4573delTTTC has been reported in the literature in one individual affected with breast cancer (Kwong_2015). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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