ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1414C>T (p.Gln472Ter) (rs80358429)

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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) RCV000112920 SCV000300429 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000043802 SCV000071815 pathogenic Hereditary breast and ovarian cancer syndrome 2016-05-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 472 (p.Gln472*) of the BRCA2 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112920 SCV000326553 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000509751 SCV000608124 pathogenic Hereditary cancer-predisposing syndrome 2016-02-15 criteria provided, single submitter clinical testing
GeneDx RCV000657753 SCV000779505 pathogenic not provided 2018-02-15 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.1414C>T at the cDNA level and p.Gln472Ter (Q472X) 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 has not, to our knowledge, been reported in the literature, it is considered pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000112920 SCV000145869 pathogenic Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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