ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2551G>T (p.Glu851Ter) (rs398122662)

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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) RCV000256930 SCV000323478 pathogenic Breast-ovarian cancer, familial 1 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000256930 SCV000325391 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV000539368 SCV000635854 pathogenic Hereditary breast and ovarian cancer syndrome 2017-03-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 851 (p.Glu851*) of the BRCA1 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758796 SCV000887642 pathogenic not provided 2018-02-06 criteria provided, single submitter clinical testing
Color RCV000772054 SCV000905080 pathogenic Hereditary cancer-predisposing syndrome 2018-02-10 criteria provided, single submitter clinical testing

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