ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7679_7680del (p.Phe2560fs) (rs80359673)

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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) RCV000077406 SCV000301189 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 RCV000077406 SCV000327711 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000483322 SCV000568485 pathogenic not provided 2017-08-10 criteria provided, single submitter clinical testing This deletion of 2 nucleotides in BRCA2 is denoted c.7679_7680delTT at the cDNA level and p.Phe2560SerfsX5 (F2560SfsX5) at the protein level. The normal sequence, with the bases that are deleted in braces, is TCTT[TT]CAGT. The deletion causes a frameshift which changes a Phenylalanine to a Serine at codon 2560, and creates a premature stop codon at position 5 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.7679_7680delTT, previously published as 7908delTT, has been observed in an individual with a personal and family history of early onset breast cancer (Ganguly 1998). We consider this variant to be pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000077406 SCV000109203 pathogenic Breast-ovarian cancer, familial 2 2010-05-11 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077406 SCV000147160 pathogenic Breast-ovarian cancer, familial 2 2006-07-19 no assertion criteria provided clinical testing

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