ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2653_2656del (p.Asp885fs) (rs80359340)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162913 SCV000213400 pathogenic Hereditary cancer-predisposing syndrome 2017-06-02 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) RCV000113073 SCV000146084 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000162913 SCV000903288 pathogenic Hereditary cancer-predisposing syndrome 2017-11-13 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113073 SCV000326741 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000496659 SCV000591815 pathogenic Hereditary breast and ovarian cancer syndrome 2012-12-03 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113073 SCV000300546 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 RCV000485965 SCV000568460 pathogenic not provided 2018-04-18 criteria provided, single submitter clinical testing This deletion of four nucleotides in BRCA2 is denoted c.2653_2656delGACA at the cDNA level and p.Asp885MetfsX9 (D885MfsX9) at the protein level. The normal sequence, with the bases that are deleted in brackets, is CTCA[delGACA]ATGA. Using alternate nomenclature, this variant would be defined as BRCA2 2881_2884delGACA. The deletion causes a frameshift which changes an Aspartic Acid to a Methionine at codon 885, and creates a premature stop codon at position 9 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.2653_2656delGACA has been observed in at least two individuals referred for hereditary cancer testing (Lecarpentier 2012). We consider this variant to be pathogenic.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496659 SCV000587639 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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