ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4485-8C>T (rs397507234)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229987 SCV000289802 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000031180 SCV000488101 uncertain significance Breast-ovarian cancer, familial 1 2015-12-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508687 SCV000605879 uncertain significance not specified 2017-07-19 criteria provided, single submitter clinical testing
Color RCV000584536 SCV000688503 likely benign Hereditary cancer-predisposing syndrome 2017-08-09 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000508687 SCV000916826 uncertain significance not specified 2018-12-24 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.4485-8C>T 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. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 7.2e-06 in 276702 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.4485-8C>T has been reported in the literature in affected individuals without strong evidence for or against pathogenicity (Lu_2012, Flower_2015 ). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as uncertain significance (2x) and twice as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
Sharing Clinical Reports Project (SCRP) RCV000031180 SCV000053780 likely benign Breast-ovarian cancer, familial 1 2011-08-12 no assertion criteria provided clinical testing

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