ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8915T>A (p.Leu2972Ter) (rs80359142)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000256493 SCV000327989 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000256493 SCV000324708 pathogenic Breast-ovarian cancer, familial 2 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000429396 SCV000516799 pathogenic not provided 2015-04-22 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.8915T>A at the cDNA level and p.Leu2972Ter (L2972X) at the protein level. The substitution, also known as 9143T>A, creates a nonsense variant, which changes a Leucine to a premature stop codon (TTG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.

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