ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6065C>G (p.Ser2022Ter) (rs80358843)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000217928 SCV000278494 pathogenic Hereditary cancer-predisposing syndrome 2016-10-12 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) RCV000113522 SCV000146757 pathogenic Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113522 SCV000327343 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000503943 SCV000592026 pathogenic Hereditary breast and ovarian cancer syndrome criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113522 SCV000300975 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 RCV000429027 SCV000512374 pathogenic not provided 2018-09-10 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.6065C>G at the cDNA level and p.Ser2022Ter (S2022X) at the protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, previously reported as BRCA2 6293C>G using alternate nomenclature, has been observed in association with breast cancer (Loman 2000, Staff 2001, Jonsson 2005, Nik-Zainal 2012, Winter 2016, Davies 2017), and is considered pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000503943 SCV000694933 pathogenic Hereditary breast and ovarian cancer syndrome 2016-01-22 criteria provided, single submitter clinical testing

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