ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9148C>T (p.Gln3050Ter) (rs80359170)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000083155 SCV000147552 pathogenic Breast-ovarian cancer, familial 2 2000-07-07 no assertion criteria provided clinical testing
Color RCV000771484 SCV000903963 pathogenic Hereditary cancer-predisposing syndrome 2017-12-24 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000083155 SCV000328068 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000083155 SCV000488214 likely pathogenic Breast-ovarian cancer, familial 2 2016-01-27 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000083155 SCV000301355 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 RCV000221883 SCV000279199 pathogenic not provided 2015-12-23 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.9148C>T at the cDNA level and p.Gln3050Ter (Q3050X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant, also known as 9376C>T using alternate nomenclature, has not been reported in the literature in association with breast or ovarian cancer, it is considered pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000083155 SCV000115229 pathogenic Breast-ovarian cancer, familial 2 2010-06-03 no assertion criteria provided clinical testing

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