ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8174_8185delinsTT (p.Trp2725fs) (rs730881615)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000257070 SCV000327828 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000257070 SCV000324626 pathogenic Breast-ovarian cancer, familial 2 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000160307 SCV000210791 pathogenic not provided 2018-03-09 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.8174_8185del12insTT at the cDNA level and p.Trp2725PhefsX5 (W2725FfsX5) at the protein level. The surrounding sequence is GGGT[del12][insTT]AGGC. The combination deletion/insertion causes a frameshift, which changes a Tryptophan to a Phenylalanine at codon 2725, and creates a premature stop codon at position 5 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 8174_8185del12insTT, previously reported as 8402_8413del12ins2bp using alternate nomenclature, has been reported in a family with breast and ovarian cancer (Diez 2010). We consider this variant to be pathogenic.
Genologica Medica RCV000257070 SCV000577971 pathogenic Breast-ovarian cancer, familial 2 2017-01-01 criteria provided, single submitter clinical testing

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