ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9580_9581del (p.Pro3194fs) (rs80359771)

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Total submissions: 7
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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) RCV000031832 SCV000301404 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031832 SCV000328157 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000479821 SCV000564803 pathogenic not provided 2016-11-28 criteria provided, single submitter clinical testing This deletion of two nucleotides in BRCA2 is denoted c.9580_9581delCC at the cDNA level and p.Pro3194AsnfsX2 (P3194NfsX2) at the protein level. The normal sequence, with the bases that are deleted in brackets, is CACC[delCC]AACT. The deletion causes a frameshift, which changes a Proline to an Asparagine at codon 3194, and creates a premature stop codon at position 2 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 c.9580_9581delCC, previously reported as 9808delCC, has been reported in association with breast and ovarian cancer (Hakansson 1997). We consider this variant to be pathogenic.
Ambry Genetics RCV000564685 SCV000665945 pathogenic Hereditary cancer-predisposing syndrome 2016-07-05 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV000564685 SCV000684074 pathogenic Hereditary cancer-predisposing syndrome 2016-08-18 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031832 SCV000054440 pathogenic Breast-ovarian cancer, familial 2 2007-06-20 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031832 SCV000147667 pathogenic Breast-ovarian cancer, familial 2 1999-06-21 no assertion criteria provided clinical testing

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