ClinVar Miner

Submissions for variant NM_007298.3(BRCA1):c.787+505del (rs80357528)

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Total submissions: 4
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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) RCV000077060 SCV000299571 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Integrated Genetics/Laboratory Corporation of America RCV000590574 SCV000698843 likely pathogenic Hereditary breast and ovarian cancer syndrome 2017-07-24 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.1292delT (p.Leu431Tyrfs) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. p.Glu1470X, p.Glu1535X, p.Tyr1703X, etc.). This variant has been reported in multiple individuals undergoing clinical testing of BRCA1/2 by clinical laboratories and during validation of assay methods (van der Stoep_2009, Mattocks_2010). This variant is absent in 121238 control chromosomes from ExAC. In addition, multiple clinical diagnostic laboratories/reputable databases have classified this variant as pathogenic. Taken together, this variant is classified as likely pathogenic.
Invitae RCV000590574 SCV000831016 pathogenic Hereditary breast and ovarian cancer syndrome 2018-06-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu431Tyrfs*10) in the BRCA1 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 an individual in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 91543). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000077060 SCV000108857 pathogenic Breast-ovarian cancer, familial 1 2008-01-24 no assertion criteria provided clinical testing

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