ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1888dupA (p.Thr630Asnfs) (rs80359314)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077671 SCV000300475 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000509652 SCV000608069 pathogenic Hereditary cancer-predisposing syndrome 2017-01-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Integrated Genetics/Laboratory Corporation of America RCV000779917 SCV000916843 pathogenic Hereditary breast and ovarian cancer syndrome 2017-11-03 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.1888dupA (p.Thr630AsnfsX6) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA2 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 (e.g. c.1889delC, p.Thr630fsX14; c.1929delG, p.Arg645fsX15; c.2103_2106delTATT, p.Phe701fsX28). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 235572 control chromosomes in gnomAD. This variant was reported in multiple HBOC patients (Walsh_2011, Kwong_2016, Yang_2017). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000077671 SCV000109474 pathogenic Breast-ovarian cancer, familial 2 2012-05-29 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077671 SCV000145971 pathogenic Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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