ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4285C>T (p.Gln1429Ter) (rs80358665)

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Total submissions: 5
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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) RCV000113290 SCV000300734 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 RCV000044388 SCV000072401 pathogenic Hereditary breast and ovarian cancer syndrome 2016-07-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1429 (p.Gln1429*) of the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic. This particular variant has been reported in an individual in the Breast Cancer Information Core database (PMID: 10923033). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000219511 SCV000273396 pathogenic Hereditary cancer-predisposing syndrome 2015-01-13 criteria provided, single submitter clinical testing
Color RCV000219511 SCV000906908 pathogenic Hereditary cancer-predisposing syndrome 2018-08-27 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113290 SCV000146402 pathogenic Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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