ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3288_3289del (p.Leu1098fs) (rs80357686)

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Total submissions: 8
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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) RCV000112048 SCV000299910 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 RCV000112048 SCV000325600 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000509738 SCV000608081 pathogenic Hereditary cancer-predisposing syndrome 2018-04-16 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)
GeneKor MSA RCV000585665 SCV000693525 pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000496891 SCV000699014 pathogenic Hereditary breast and ovarian cancer syndrome 2016-09-15 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.3288_3289delAA (p.Leu1098Serfs) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. If a protein product is made, it is predicted to truncate the highly conserved BRCT domain. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.3296delC/p.Pro1099fs). One in silico tool predicts a damaging outcome for this variant. This variant was absent in 121236 control chromosomes, but has been reported in multiple HBOC patients in the literature. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000585665 SCV000887663 pathogenic not provided 2018-02-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112048 SCV000144701 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496891 SCV000587294 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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