ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3385C>T (p.Gln1129Ter) (rs1555283209)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573112 SCV000661319 pathogenic Hereditary cancer-predisposing syndrome 2016-06-27 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)
GeneDx RCV000657682 SCV000779431 pathogenic not provided 2016-05-04 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.3385C>T at the cDNA level and p.Gln1129Ter (Q1129X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Using alternate nomenclature, this variant would be defined as BRCA2 3613C>T. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000587755 SCV000694688 likely pathogenic Hereditary breast and ovarian cancer syndrome 2016-05-31 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.3385C>T (p.Gln1129X) 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 p.Leu1152X, p.Phe1182fsX1, p.Lys1191fsX6). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 120770 control chromosomes and has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic.

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