ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.241C>T (p.Gln81Ter) (rs80357350)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA1) RCV000112105 SCV000144777 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112105 SCV000325352 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Medical Genetics,Oslo University Hospital RCV000112105 SCV000564299 pathogenic Breast-ovarian cancer, familial 1 2015-07-01 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000047834 SCV000591253 pathogenic Hereditary breast and ovarian cancer syndrome 2014-09-10 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112105 SCV000299430 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735472 SCV000863609 pathogenic Breast and/or ovarian cancer 2000-09-06 no assertion criteria provided clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763008 SCV000893453 pathogenic Familial cancer of breast; Breast-ovarian cancer, familial 1; Pancreatic cancer 4; FANCONI ANEMIA, COMPLEMENTATION GROUP S 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000047834 SCV000075847 pathogenic Hereditary breast and ovarian cancer syndrome 2018-02-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln81*) 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 a family affected with breast cancer or ovarian cancer (PMID: 15382066). This variant is also known as c.360C_x0001_>T in the literature. ClinVar contains an entry for this variant (Variation ID: 54565). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000047834 SCV000587041 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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