ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1029del (p.Lys343fs) (rs80359260)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165362 SCV000216088 pathogenic Hereditary cancer-predisposing syndrome 2018-03-13 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) RCV000031305 SCV000145808 pathogenic Breast-ovarian cancer, familial 2 1999-04-12 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031305 SCV000326485 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Molecular Medicine,Queen's University RCV000496804 SCV000588075 pathogenic Hereditary breast and ovarian cancer syndrome 2017-04-20 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031305 SCV000300382 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 RCV000218354 SCV000279590 pathogenic not provided 2018-12-28 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.1029delA at the cDNA level and p.Lys343AsnfsX6 (K343NfsX6) at the protein level. The normal sequence, with the base that is deleted in brackets, is GAAAA[delA]TCTA. The deletion causes a frameshift, which changes a Lysine to an Asparagine at codon 343, and creates a premature stop codon at position 6 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.1029delA, also known as 1257delA by alternate nomenclature, has been identified in individuals with ovarian cancer and breast cancer (Risch 2001, Meyer 2012, Song 2014, Schrader 2015). We consider this variant to be pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000496804 SCV000694502 pathogenic Hereditary breast and ovarian cancer syndrome 2016-04-18 criteria provided, single submitter clinical testing Variant summary: The variant of interest causes a frameshift mutation resulting in a premature termination codon, a known mechanism for disease, as these types of variants are predicted to cause transcript degradation through nonsense mediated decay or produce a truncated protein. The variant of interest was not observed in controls (1000 Gs, ExAC or ESP) and has been reported in multiple affected individuals via publications. In addition, multiple reputable databases/clinical laboratories cite the variant with a classification of "pathogenic." Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000031305 SCV000296578 pathogenic Breast-ovarian cancer, familial 2 2016-01-14 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496804 SCV000587578 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000031305 SCV000053910 pathogenic Breast-ovarian cancer, familial 2 2011-09-07 no assertion criteria provided clinical testing

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