ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5074+5A>T (rs431825411)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000605490 SCV000722312 likely benign not specified 2017-08-28 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 RCV000637385 SCV000758841 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-08-31 criteria provided, single submitter clinical testing This sequence change falls in intron 16 of the BRCA1 gene. It does not directly change the encoded amino acid sequence of the BRCA1 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs431825411, ExAC 0.002%). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 96938). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies using RNA extracted from patient derived lymphoblastoid cell lines have shown that this sequence change does not result in a splicing defect (PMID: 22505045). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000774933 SCV000908994 likely benign Hereditary cancer-predisposing syndrome 2018-10-04 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083059 SCV000115133 uncertain significance Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing

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