ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2347A>G (p.Ile783Val) (rs80356948)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130405 SCV000185266 benign Hereditary cancer-predisposing syndrome 2015-08-29 criteria provided, single submitter clinical testing
GeneDx RCV000254637 SCV000209936 likely benign not specified 2018-01-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000083181 SCV000296304 uncertain significance Breast-ovarian cancer, familial 1 2016-05-18 criteria provided, single submitter clinical testing
Counsyl RCV000083181 SCV000488046 uncertain significance Breast-ovarian cancer, familial 1 2015-12-18 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000254637 SCV000591381 benign not specified 2014-05-15 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590349 SCV000698943 likely benign not provided 2016-08-11 criteria provided, single submitter clinical testing Variant summary: The c.2347A>G (p.Ile783Val) in BRCA1 gene is a missense change that involves a non-conserved nucleotide and 5/5 in silico tools predict benign outcome. The variant of interest is located outside of any known functional domain. The variant is present in the control population dataset of ExAC at an overall frequency 0.0001 (10/12134 chrs tested) exclusively in individuals of East Asian ancestry (0.0012; 10/8652 chrs tested). The latter frequency exceeds the estimated maximum allele frequency for a pathogenic allele in this gene (0.001). The variant was absent in a cohort of 645 Chinese BrC cases but was found in two Chinese subjects one of whom had a benign breast disease. The variant has been reported as Benign/Likely Benign by several reputable databases/clinical laboratories. Population data suggest that the variant may be an ethnic-specific benign rare polymorphism. Taking together, the variant was classified as Likely Benign.
Color RCV000130405 SCV000903502 benign Hereditary cancer-predisposing syndrome 2016-09-23 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083181 SCV000115255 benign Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083181 SCV000144386 uncertain significance Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing

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