ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.301+8T>C (rs80358101)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123880 SCV000167225 benign not specified 2014-03-14 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.
Michigan Medical Genetics Laboratories,University of Michigan RCV000112243 SCV000195880 benign Breast-ovarian cancer, familial 1 2016-04-21 criteria provided, single submitter clinical testing
Invitae RCV000198056 SCV000252815 benign Hereditary breast and ovarian cancer syndrome 2017-12-15 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000123880 SCV000591256 likely benign not specified criteria provided, single submitter clinical testing
Color RCV000580640 SCV000683079 likely benign Hereditary cancer-predisposing syndrome 2016-05-16 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586430 SCV000698995 likely benign not provided 2016-03-24 criteria provided, single submitter clinical testing Variant summary: c.301+8T>C affects a non-conserved nucleotide, resulting in an intronic change. Mutation taster predicts benign outcome. The variant is located in a position not widely known to affect splicing and 5/5 splicing prediction programs suggest no effect on splicing. This variant was found in 17/121300 control chromosomes at a frequency of 0.0001401, predominantly observed in the African subpopulation of ExAC with observed MAF of 0.001252, which exceeds the maximal expected frequency of a pathogenic allele (0.0010005), suggesting that the variant might be a polymorphism found in population(s) of African origin. Although the variant has been reported in subjects from HBOC families, there is no cosegregation study to show whether the variant could have explained the phenotype. BIC cites variant in one individual who also carried a potentially pathogenic variant BRCA1 c.302-1G>A. In addition, multiple clinical laboratories classified this variant as benign. Considering all, this variant is classified as Likely Benign until more information becomes available.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586430 SCV000888883 benign not provided 2018-08-11 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112243 SCV000144959 uncertain significance Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000112243 SCV000297596 benign Breast-ovarian cancer, familial 1 2012-11-30 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000586430 SCV000778778 likely benign not provided 2017-11-01 no assertion criteria provided clinical testing

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