ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1823_1826delAGAA (p.Lys608Ilefs) (rs80357585)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131901 SCV000186956 pathogenic Hereditary cancer-predisposing syndrome 2017-08-16 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)
Breast Cancer Information Core (BIC) (BRCA1) RCV000111693 SCV000144194 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Color RCV000131901 SCV000682988 pathogenic Hereditary cancer-predisposing syndrome 2017-03-20 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111693 SCV000325154 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000111693 SCV000221028 pathogenic Breast-ovarian cancer, familial 1 2015-01-15 criteria provided, single submitter literature only
Department of Medical Genetics,Oslo University Hospital RCV000111693 SCV000564370 pathogenic Breast-ovarian cancer, familial 1 2015-07-31 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000111693 SCV000282264 pathogenic Breast-ovarian cancer, familial 1 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Integrated Genetics/Laboratory Corporation of America RCV000047598 SCV000698889 pathogenic Hereditary breast and ovarian cancer syndrome 2016-07-01 criteria provided, single submitter clinical testing
Invitae RCV000047598 SCV000075611 pathogenic Hereditary breast and ovarian cancer syndrome 2017-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys608Ilefs*3) 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 the literature in individuals and families affected with breast and ovarian cancer (PMID: 10486320, 24728189, 25452441, 9333265, 24504028). This variant is also known as 1942del4 and 608_609del in the literature. ClinVar contains an entry for this variant (Variation ID: 54361). 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 RCV000111693 SCV000296320 pathogenic Breast-ovarian cancer, familial 1 2015-11-17 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000111693 SCV000189328 pathogenic Breast-ovarian cancer, familial 1 2011-03-07 no assertion criteria provided clinical testing

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