ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.301+2dupT (rs273899694)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA1) RCV000112241 SCV000144956 pathogenic Breast-ovarian cancer, familial 1 2001-02-16 no assertion criteria provided clinical testing
Invitae RCV000467483 SCV000549430 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-09-03 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the BRCA1 mRNA. It does not directly change the encoded amino acid sequence of the BRCA1 protein. This variant is not present in population databases (rs273899694, ExAC no frequency) and has not been reported in the literature in individuals with a BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 125664). Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this intronic variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759514 SCV000888881 uncertain significance not provided 2018-05-17 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000112241 SCV000297595 likely benign Breast-ovarian cancer, familial 1 2012-08-28 no assertion criteria provided clinical testing

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