ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5471dup (p.Asn1824fs) (rs80359515)

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Total submissions: 13
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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) RCV000031548 SCV000300880 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 RCV000258964 SCV000210765 pathogenic not provided 2018-04-05 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA2 is denoted c.5471dupA at the cDNA level and p.Asn1824LysfsX5 (N1824KfsX5) at the protein level. The normal sequence, with the base that is duplicated in brackets, is TAAAA[dupA]TGCA. The duplication causes a frameshift, which changes an Asparagine to a Lysine at codon 1824, 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.5471dupA, previously reported as 5699insA using alternate nomenclature, has been reported in association with hereditary breast and/or ovarian cancer (Lubinski 2004). We consider this variant to be pathogenic.
Ambry Genetics RCV000166935 SCV000217754 pathogenic Hereditary cancer-predisposing syndrome 2016-09-02 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),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031548 SCV000327221 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000031548 SCV000489215 pathogenic Breast-ovarian cancer, familial 2 2016-09-09 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000496721 SCV000586961 pathogenic Hereditary breast and ovarian cancer syndrome 2017-04-18 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000496721 SCV000591971 pathogenic Hereditary breast and ovarian cancer syndrome 2014-02-07 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000496721 SCV000694873 pathogenic Hereditary breast and ovarian cancer syndrome 2017-01-03 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.5471dupA (p.Asn1824Lysfs) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA2 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant of interest was not observed in controls (ExAC, 1000 Gs, or ESP) and a publication reports the variant in an affected individual. In addition, multiple clinical diagnostic laboratories/databases cite the variant as "pathogenic." Therefore, the variant of interest has been classified as "pathogenic."
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000258964 SCV000889069 pathogenic not provided 2018-02-02 criteria provided, single submitter clinical testing
Color RCV000166935 SCV000911167 pathogenic Hereditary cancer-predisposing syndrome 2015-04-07 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031548 SCV000054153 pathogenic Breast-ovarian cancer, familial 2 2012-01-24 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031548 SCV000146620 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496721 SCV000587769 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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