ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.301+7G>A (rs80358113)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000168481 SCV000209904 benign not specified 2014-06-24 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.
Invitae RCV000195851 SCV000252814 benign Hereditary breast and ovarian cancer syndrome 2017-12-28 criteria provided, single submitter clinical testing
Counsyl RCV000031080 SCV000488102 benign Breast-ovarian cancer, familial 1 2015-12-28 criteria provided, single submitter clinical testing
Color RCV000579925 SCV000683078 likely benign Hereditary cancer-predisposing syndrome 2015-07-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759515 SCV000888882 benign not provided 2018-06-28 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000168481 SCV000918797 likely benign not specified 2018-11-19 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.301+7G>A alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. The variant allele was found at a frequency of 8.3e-05 in 277346 control chromosomes (gnomAD and publication). This frequency is not significantly higher than expected for a pathogenic variant in BRCA1 causing Hereditary Breast and Ovarian Cancer (8.3e-05 vs 0.001), allowing no conclusion about variant significance. The variant, c.301+7G>A, has been reported in the literature in individuals affected with Breast and Ovarian Cancer (Konstantopoulou_2008, Ratajska_2014, Kluska_2015). These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. Two publication reports experimental evidence evaluating an impact on splicing. These results showed no damaging effect of this variant (Steffensen_2014, Houdayer_2012). Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
Sharing Clinical Reports Project (SCRP) RCV000031080 SCV000053676 benign Breast-ovarian cancer, familial 1 2011-03-14 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031080 SCV000144958 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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