ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4185+10G>A (rs80358104)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229043 SCV000289793 benign Hereditary breast and ovarian cancer syndrome 2017-11-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000083048 SCV000296460 uncertain significance Breast-ovarian cancer, familial 1 2016-04-16 criteria provided, single submitter clinical testing
GeneDx RCV000421135 SCV000531311 likely benign not specified 2017-09-25 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.
Color RCV000581043 SCV000683157 likely benign Hereditary cancer-predisposing syndrome 2017-03-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590795 SCV000699115 uncertain significance not provided 2017-08-25 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.4185+10G>A variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 2/5 splice prediction tools predict the strengthening of an alternative cryptic site. However, these predictions have yet to be confirmed by functional studies. The variant is present in the control population datasets of ExAC and gnomAD at frequency of 8.609e-6 (1/78720 and 2/ 232302 chrs. tested, respectively), which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). The variant of interest has been cited by reputable databases/clinical laboratories as VUS/Likely Benign/Benign. Taking together the variant was classified as VUS due to the lack of supporting evidence and discordant classification.
Counsyl RCV000083048 SCV000784871 likely benign Breast-ovarian cancer, familial 1 2017-01-18 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083048 SCV000115122 benign Breast-ovarian cancer, familial 1 2011-09-16 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083048 SCV000145008 uncertain significance Breast-ovarian cancer, familial 1 2010-12-17 no assertion criteria provided clinical testing

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