ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9106C>T (p.Gln3036Ter) (rs202155613)

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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 RCV000257850 SCV000328051 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) RCV000257850 SCV000324742 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 RCV000481378 SCV000571261 pathogenic not provided 2016-09-01 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.9106C>T at the cDNA level and p.Gln3036Ter (Q3036X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in at least one man with a history of breast cancer (Roed Nielsen 2016) and is considered pathogenic.
Invitae RCV000637689 SCV000759160 pathogenic Hereditary breast and ovarian cancer syndrome 2017-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln3036*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in an individual affected with male breast cancer cancer (PMID: 26360800). ClinVar contains an entry for this variant (Variation ID: 267139). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

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