ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5080A>T (p.Arg1694Ter) (rs200265692)

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Total submissions: 4
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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) RCV000031525 SCV000300827 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 RCV000255681 SCV000321465 pathogenic not provided 2018-11-19 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.5080A>T at the cDNA level and p.Arg1694Ter (R1694X) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 5308A>T. The substitution creates a nonsense variant, which changes an Arginine to a premature stop codon (AGA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031525 SCV000327127 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031525 SCV000054130 pathogenic Breast-ovarian cancer, familial 2 2010-03-05 no assertion criteria provided clinical testing

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