ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3860dupA (p.Asn1287Lysfs) (rs80359406)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000113229 SCV000146315 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000772033 SCV000905011 pathogenic Hereditary cancer-predisposing syndrome 2018-05-11 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113229 SCV000326928 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000113229 SCV000677677 pathogenic Breast-ovarian cancer, familial 2 2017-02-21 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113229 SCV000300675 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 RCV000497279 SCV000210741 pathogenic not provided 2017-06-02 criteria provided, single submitter clinical testing This duplication of one nucleotide is denoted BRCA2 c.3860dupA at the cDNA level and p.Asn1287LysfsX2 (N1287KfsX2) at the protein level. The normal sequence, with the base that is duplicated in brackets, is GAAAAAA[dupA]TAAT. The duplication causes a frameshift, which changes an Asparagine to a Lysine at codon 1287, and creates a premature stop codon at position 2 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 3860dupA, previously reported as 4081insA or 4088insA, has been observed previously in association with breast and/or ovarian cancer and is reported to be a founder variant in the Finnish population (Sarantaus 2000, Hartikainen 2007, Karami 2013). We consider this variant to be pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000497279 SCV000887800 pathogenic not provided 2018-07-08 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496333 SCV000587684 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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