ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6441_6442CT[1] (p.Ser2148fs) (rs80359589)

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Total submissions: 6
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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) RCV000113588 SCV000301043 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113588 SCV000327426 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000482507 SCV000566358 pathogenic not provided 2015-04-23 criteria provided, single submitter clinical testing This deletion of 4 nucleotides in BRCA2 is denoted c.6644_6647delACTC at the cDNA level and p.Tyr2215SerfsX13 (Y2215SfsX13) at the protein level. The normal sequence, with the bases that are deleted in braces, is ACTTA[ACTC]CAAA. The deletion causes a frameshift, which changes a Tyrosine to a Serine at codon 2215, and creates a premature stop codon at position 13 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.6644_6647delACTC, previously reported as BRCA2 6671delCT, has been observed in Danish hereditary breast ovarian cancer families as well as in an individual with breast cancer (Thomassen 2008, Borg 2010). we consider this variant to be pathogenic.
Color RCV000582455 SCV000688979 pathogenic Hereditary cancer-predisposing syndrome 2017-07-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000482507 SCV000887879 pathogenic not provided 2017-09-15 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113588 SCV000146853 pathogenic Breast-ovarian cancer, familial 2 2004-05-19 no assertion criteria provided clinical testing

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