ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1496_1497del (p.Gln499fs) (rs80359285)

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Total submissions: 5
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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) RCV000112927 SCV000300433 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000162911 SCV000213398 pathogenic Hereditary cancer-predisposing syndrome 2016-02-28 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112927 SCV000326560 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000657221 SCV000778947 pathogenic not provided 2017-03-27 criteria provided, single submitter clinical testing This deletion of two nucleotides in BRCA2 is denoted c.1496_1497delAG at the cDNA level and p.Gln499ArgfsX14 (Q499RfsX14) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 1724delAG. The normal sequence, with the bases that are deleted in brackets, is TTTC[delAG]GGTA. The deletion causes a frameshift which changes a Glutamine to an Arginine at codon 499, and creates a premature stop codon at position 14 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.1496_1497delAG has been reported in a family with male breast cancer (Coppa 2014). We consider this variant to be pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000112927 SCV000145878 pathogenic Breast-ovarian cancer, familial 2 1997-11-13 no assertion criteria provided clinical testing

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