ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.627+5G>A (rs745727200)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218647 SCV000275563 uncertain significance Hereditary cancer-predisposing syndrome 2015-05-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000234365 SCV000291054 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-12-21 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the BRIP1 mRNA. It does not directly change the encoded amino acid sequence of the BRIP1 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs745727200, ExAC 0.003%) but has not been reported in the literature in individuals with a BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 231653). Nucleotide substitutions at the +5 position of the intron are relatively common causes of aberrant splicing (PMID: 17576681). Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare intronic change affecting highly conserved nucleotide with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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