ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3160_3163del (p.Asp1054fs) (rs80359371)

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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 RCV000162917 SCV000213404 pathogenic Hereditary cancer-predisposing syndrome 2016-07-22 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) RCV000031405 SCV000146180 pathogenic Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000162917 SCV000905007 pathogenic Hereditary cancer-predisposing syndrome 2015-04-04 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031405 SCV000326822 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) RCV000031405 SCV000282378 pathogenic Breast-ovarian cancer, familial 2 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000486228 SCV000568463 pathogenic not provided 2016-06-10 criteria provided, single submitter clinical testing This deletion of 4 nucleotides in BRCA2 is denoted c.3160_3163delGATA at the cDNA level and p.Asp1054IlefsX5 (D1054IfsX5) at the protein level. Using alternate nomenclature this variant would be defined as BRCA2 c.3388_3391delGATA. The normal sequence, with the bases that are deleted in braces, is ATTA[GATA]ATCA. The deletion causes a frameshift which changes an Aspartic Acid to an Isoleucine at codon 1054, and creates a premature stop codon at position 5 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, 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.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496672 SCV000587659 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000031405 SCV000054010 pathogenic Breast-ovarian cancer, familial 2 2010-02-11 no assertion criteria provided clinical testing

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