ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8219T>A (p.Leu2740Ter) (rs80359070)

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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) RCV000113889 SCV000301256 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 RCV000236578 SCV000293486 pathogenic not provided 2018-08-15 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.8219T>A at the cDNA level and p.Leu2740Ter (L2740X) at the protein level. The substitution creates a nonsense variant, which changes a Leucine to a premature stop codon (TTA>TAA) , and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in a Fanconi anemia patient with a second truncating BRCA2 variant in trans (Popp 2003, Hirsch 2004) and is considered pathogenic.
OMIM RCV000009934 SCV000030155 pathogenic Fanconi anemia, complementation group D1 2004-04-01 no assertion criteria provided literature only
Breast Cancer Information Core (BIC) (BRCA2) RCV000113889 SCV000147301 pathogenic Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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