ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7689del (p.His2563fs) (rs80359674)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165023 SCV000215720 pathogenic Hereditary cancer-predisposing syndrome 2014-06-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Breast Cancer Information Core (BIC) (BRCA2) RCV000077407 SCV000147163 pathogenic Breast-ovarian cancer, familial 2 2000-11-10 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077407 SCV000327716 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) RCV000077407 SCV000301193 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 RCV000484171 SCV000564793 pathogenic not provided 2018-08-07 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.7689delC at the cDNA level and p.His2563GlnfsX85 (H2563QfsX85) at the protein level. The normal sequence, with the base that is deleted in brackets, is TTCA[delC]ACTG. The deletion causes a frameshift which changes a Histidine to a Glutamine at codon 2563, and creates a premature stop codon at position 85 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature as a germline variant, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000077407 SCV000109204 pathogenic Breast-ovarian cancer, familial 2 2010-05-27 no assertion criteria provided clinical testing

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