ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3860del (p.Asn1287fs) (rs80359406)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131539 SCV000186537 pathogenic Hereditary cancer-predisposing syndrome 2013-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000214509 SCV000277411 pathogenic Tumor susceptibility linked to germline BAP1 mutations 2015-07-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV000468572 SCV000541004 pathogenic Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077316 SCV000146317 pathogenic Breast-ovarian cancer, familial 2 2004-11-25 no assertion criteria provided clinical testing
Color RCV000131539 SCV000683586 pathogenic Hereditary cancer-predisposing syndrome 2017-03-16 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077316 SCV000326927 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000077316 SCV000677676 pathogenic Breast-ovarian cancer, familial 2 2017-01-20 criteria provided, single submitter clinical testing
Department of Medical Genetics,Oslo University Hospital RCV000077316 SCV000605632 pathogenic Breast-ovarian cancer, familial 2 2015-07-01 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077316 SCV000300674 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735542 SCV000863680 pathogenic Breast and/or ovarian cancer 2010-01-19 no assertion criteria provided clinical testing
GeneDx RCV000212232 SCV000210740 pathogenic not provided 2017-06-15 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.3860delA at the cDNA level and p.Asn1287IlefsX6 (N1287IfsX6) at the protein level. The normal sequence, with the base that is deleted in braces, is GAAAAAA[A]TAAT. The deletion causes a frameshift, which changes an Asparagine to an Isoleucine at codon 1287, 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.3860delA, previously reported as BRCA2 4088delA using alternate nomenclature, has been reported in association with familial breast and/or ovarian cancer (Llort 2002, Perkowska 2003, Papi 2009, Janavicius 2010, Tea 2014, Kim 2016). We therefore consider this variant to be pathogenic.
Genologica Medica RCV000077316 SCV000577952 pathogenic Breast-ovarian cancer, familial 2 2017-01-01 criteria provided, single submitter clinical testing
Invitae RCV000044288 SCV000072301 pathogenic Hereditary breast and ovarian cancer syndrome 2018-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn1287Ilefs*6) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with breast and/or ovarian cancer (PMID: 11857748, 24156927, 23199084, 12942367, 27393621, 12955716). This variant has also been reported as 4082delA and 4088delA in the literature. ClinVar contains an entry for this variant (Variation ID: 51545). 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 RCV000212232 SCV000600567 pathogenic not provided 2017-05-24 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000044288 SCV000587685 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000077316 SCV000109113 pathogenic Breast-ovarian cancer, familial 2 2010-05-25 no assertion criteria provided clinical testing

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