ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2599C>T (p.Gln867Ter) (rs886038001)

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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) RCV000240974 SCV000299792 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 RCV000240974 SCV000325404 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneKor MSA RCV000585697 SCV000693520 pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing
Invitae RCV000637361 SCV000758816 pathogenic Hereditary breast and ovarian cancer syndrome 2017-10-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln867*) 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 with breast cancer in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 254414). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000240974 SCV000733640 pathogenic Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing

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