ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8575del (p.Gln2859fs) (rs80359718)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130105 SCV000184935 pathogenic Hereditary cancer-predisposing syndrome 2017-07-12 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) RCV000031752 SCV000147406 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000045564 SCV000586983 pathogenic Hereditary breast and ovarian cancer syndrome 2017-04-18 criteria provided, single submitter clinical testing
Color RCV000130105 SCV000683986 pathogenic Hereditary cancer-predisposing syndrome 2016-11-14 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031752 SCV000327928 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000045564 SCV000592211 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-20 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031752 SCV000282459 pathogenic Breast-ovarian cancer, familial 2 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000218043 SCV000278881 pathogenic not provided 2018-08-20 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.8575delC at the cDNA level and p.Gln2859LysfsX4 (Q2859KfsX4) at the protein level. The normal sequence, with the base that is deleted in brackets, is CCAA[delC]AAAAG. The deletion causes a frameshift, which changes a Glutamine to a Lysine at codon 2859 and creates a premature stop codon at position 4 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.8575delC, also known as BRCA2 8803delC using alternate nomenclature, has been reported in association with breast, ovarian, and prostate cancer (Loman 2001, Capalbo 2006, Borg 2010, Zhang 2011, Pritchard 2016, Roed Nielsen 2016, Seifert 2016) and is considered to be pathogenic.
Invitae RCV000045564 SCV000073577 pathogenic Hereditary breast and ovarian cancer syndrome 2018-10-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln2859Lysfs*4) 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 individuals affected with breast cancer (PMID: 11304778, 20104584, 23704984, 26360800, 27083775), and an individual affected with prostate cancer (PMID: 27433846). This variant is also known as 8803delC in the literature. ClinVar contains an entry for this variant (Variation ID: 38169). 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 RCV000218043 SCV000296664 pathogenic not provided 2015-11-04 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000045564 SCV000587961 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000031752 SCV000054360 pathogenic Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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