ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2634_2635CT[1] (p.Asp878_Ser879insTer) (rs276174826)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000113072 SCV000146083 pathogenic Breast-ovarian cancer, familial 2 2010-09-18 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113072 SCV000326736 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Department of Medical Genetics,Oslo University Hospital RCV000113072 SCV000605629 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) RCV000113072 SCV000300543 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 RCV000657806 SCV000779561 pathogenic not provided 2018-02-12 criteria provided, single submitter clinical testing This deletion of two nucleotides is denoted BRCA2 c.2636_2637delCT at the cDNA level and p.Ser879Ter (S879X) at the protein level. The normal sequence, with the bases that are deleted in brackets, is GACT[delCT]GAAG. The deletion creates a nonsense variant, which changes a Serine 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. Using alternate nomenclature this variant has been defined as BRCA2 c.2634delCT, BRCA2 2864_2865delCT, and BRCA2 2864delCT. BRCA2 c.2636_2637delCT has been observed in association with hereditary breast and ovarian cancer (Thirthagiri 2008, Toh 2008, Heramb 2018). This variant is considered pathogenic.
Genologica Medica RCV000113072 SCV000577949 pathogenic Breast-ovarian cancer, familial 2 2017-01-01 criteria provided, single submitter clinical testing

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