ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1189C>T (p.Gln397Ter) (rs760815829)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000240964 SCV000786306 likely pathogenic Breast-ovarian cancer, familial 2 2018-04-12 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000240964 SCV000300402 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneKor MSA RCV000585716 SCV000693555 pathogenic Familial cancer of breast 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000227783 SCV000283164 pathogenic Hereditary breast and ovarian cancer syndrome 2018-05-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln397*) 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 individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 236829). 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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