ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2963C>A (p.Ser988Ter) (rs397507206)

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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) RCV000225640 SCV000282296 pathogenic Breast-ovarian cancer, familial 1 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000166800 SCV000217614 pathogenic Hereditary cancer-predisposing syndrome 2014-11-04 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)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000225640 SCV000325509 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000487157 SCV000567865 pathogenic not provided 2016-08-09 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.2963C>A at the cDNA level and p.Ser988Ter (S988X) at the protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, previously published as 3082C>A using alternate nomenclature, has been observed in association with breast and ovarian cancer (Scott 2003, Alsop 2012, Konstantopoulou 2014). Based on the current evidence, we consider this variant to be pathogenic.

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