ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2101A>T (p.Lys701Ter) (rs876660282)

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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) RCV000660958 SCV000783197 pathogenic Breast-ovarian cancer, familial 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000218292 SCV000277578 pathogenic Hereditary cancer-predisposing syndrome 2015-08-06 criteria provided, single submitter clinical testing
Invitae RCV000531745 SCV000635830 pathogenic Hereditary breast and ovarian cancer syndrome 2017-01-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 701 (p.Lys701*) 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 RCV000758792 SCV000887634 pathogenic not provided 2017-10-19 criteria provided, single submitter clinical testing
Color RCV000218292 SCV000905145 pathogenic Hereditary cancer-predisposing syndrome 2015-04-15 criteria provided, single submitter clinical testing

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