ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3511A>T (p.Lys1171Ter) (rs730882164)

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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) RCV000162046 SCV000299957 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 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 RCV000162046 SCV000325674 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV000540560 SCV000635900 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 1171 (p.Lys1171*) of the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic. This particular variant has been reported in the literature in two individuals affected with breast or ovarian cancer (PMID: 26014432). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000571457 SCV000665331 pathogenic Hereditary cancer-predisposing syndrome 2017-04-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Division Human Genetics,Medical University Innsbruck RCV000162046 SCV000211999 pathogenic Breast-ovarian cancer, familial 1 2015-02-11 no assertion criteria provided clinical testing

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