ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1850C>A (p.Ser617Ter) (rs397507278)

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Total submissions: 4
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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) RCV000031346 SCV000300469 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 RCV000510116 SCV000608143 pathogenic Hereditary cancer-predisposing syndrome 2015-10-01 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 RCV000587137 SCV000694579 likely pathogenic Hereditary breast and ovarian cancer syndrome 2017-03-02 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.1850C>A (p.Ser617X) 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.1855C>T (p.Gln619X), c.1888dupA (p.Thr630fsX6), c.1889delC (p.Thr630fsX14), and c.1929delG (p.Arg645fsX15)). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 117182 control chromosomes. In addition, multiple reputable databases classified this variant as pathogenic. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000031346 SCV000053951 pathogenic Breast-ovarian cancer, familial 2 2011-07-13 no assertion criteria provided clinical testing

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