ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer) (rs80359686)

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Total submissions: 16
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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) RCV000031708 SCV000301220 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000131090 SCV000186020 pathogenic Hereditary cancer-predisposing syndrome 2016-11-01 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)
GeneDx RCV000212264 SCV000210813 pathogenic not provided 2018-04-30 criteria provided, single submitter clinical testing This deletion of five nucleotides is denoted BRCA2 c.7913_7917delTTCCT at the cDNA level and p.Phe2638Ter (F2638X) at the protein level. The normal sequence, with the bases that are deleted in brackets, is GCCT[delTTCCT]AAGG. The deletion creates a nonsense variant, which changes a Phenylalanine to a premature stop codon. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, also denoted BRCA2 8141del5, has been reported in individuals with a personal and/or family history of early-onset breast or ovarian cancer (Frank 1998, Balabas 2010, Becker 2012, Couch 2015, Wojcik 2016) and has also been named a pathogenic founder variant in the Czech population (Janavicius 2010). We consider BRCA2 c.7913_7917delTTCCT to be pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000031708 SCV000296577 pathogenic Breast-ovarian cancer, familial 2 2016-01-16 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031708 SCV000327761 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000496275 SCV000586977 pathogenic Hereditary breast and ovarian cancer syndrome 2017-04-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000212264 SCV000602878 pathogenic not provided 2017-08-02 criteria provided, single submitter clinical testing
Department of Medical Genetics,Oslo University Hospital RCV000031708 SCV000605640 pathogenic Breast-ovarian cancer, familial 2 2015-07-01 criteria provided, single submitter clinical testing
Color RCV000131090 SCV000689078 pathogenic Hereditary cancer-predisposing syndrome 2017-11-09 criteria provided, single submitter clinical testing
GeneKor MSA RCV000585650 SCV000693582 pathogenic Familial cancer of breast 2017-11-01 criteria provided, single submitter clinical testing
Counsyl RCV000031708 SCV000785901 pathogenic Breast-ovarian cancer, familial 2 2018-01-04 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212264 SCV000887930 pathogenic not provided 2016-01-16 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031708 SCV000054315 pathogenic Breast-ovarian cancer, familial 2 2010-09-27 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031708 SCV000147214 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496275 SCV000587921 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
True Health Diagnostics RCV000131090 SCV000787951 pathogenic Hereditary cancer-predisposing syndrome 2017-12-07 no assertion criteria provided clinical testing

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