ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2588dupA (p.Asn863Lysfs) (rs80359335)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218358 SCV000274641 pathogenic Hereditary cancer-predisposing syndrome 2017-04-07 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
Breast Cancer Information Core (BIC) (BRCA2) RCV000031374 SCV000146075 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768587 SCV000219316 pathogenic Breast and/or ovarian cancer 2015-12-04 criteria provided, single submitter clinical testing
Color RCV000218358 SCV000903410 pathogenic Hereditary cancer-predisposing syndrome 2017-11-12 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031374 SCV000326727 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000044019 SCV000591812 pathogenic Hereditary breast and ovarian cancer syndrome 2013-01-14 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031374 SCV000300532 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Fulgent Genetics,Fulgent Genetics RCV000031374 SCV000575727 pathogenic Breast-ovarian cancer, familial 2 2015-08-07 criteria provided, single submitter clinical testing
GeneDx RCV000296013 SCV000329135 pathogenic not provided 2017-10-09 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA2 is denoted c.2588dupA at the cDNA level and p.Asn863LysfsX18 (N863KfsX18) at the protein level. The normal sequence, with the base that is duplicated in brackets, is CAAAAAA[dupA]TCAA. The duplication causes a frameshift, which changes an Asparagine to a Lysine at codon 863, and creates a premature stop codon at position 18 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.2588dupA, previously reported as 2816insA, has been observed in multiple individuals with personal and family histories of breast and/or ovarian cancer (Tonin 1998, Kanaan 2003, Song 2014, Kang 2015) and has been reported as a recurrent variant in the French Canadian population (Simard 2007). We consider this variant to be pathogenic.
Invitae RCV000044019 SCV000072032 pathogenic Hereditary breast and ovarian cancer syndrome 2018-12-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn863Lysfs*18) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs768104789, ExAC 0.003%). This variant has been reported in individuals affected with breast cancer, ovarian cancer, and Fanconi anemia (PMID: 11030417, 21324516, 24728189, 15070707). This variant is also known as 2816insA in the literature. ClinVar contains an entry for this variant (Variation ID: 37793). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000296013 SCV000887781 pathogenic not provided 2018-08-13 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000044019 SCV000587637 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000031374 SCV000053979 pathogenic Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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