ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6308C>G (p.Ser2103Ter) (rs80358870)

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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 RCV000129618 SCV000184411 pathogenic Hereditary cancer-predisposing syndrome 2013-09-03 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000241268 SCV000301016 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000657723 SCV000779473 pathogenic not provided 2017-06-07 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.6308C>G at the cDNA level and p.Ser2103Ter (S2103X) at the protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has not, to our knowledge, been published in the literature as pathogenic or benign, however a different nucleotide change leading to the same nonsense variant, c.6308C>A, has been reported in one individual with a personal or family history of breast and/or ovarian cancer (Tea 2014). We consider BRCA2 Ser2103Ter to be a pathogenic variant.

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