ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3726_3730dup (p.Met1244fs) (rs1491231712)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470471 SCV000547273 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-11-20 criteria provided, single submitter clinical testing This sequence change inserts 5 nucleotide in exon 20 of the BRIP1 mRNA (c.3726_3730dupAGGCA), causing a frameshift at codon 1244. This extends the reading frame downstream of the original stop signal in the last exon of the BRIP1 mRNA (p.Met1244Lysfs*12). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 6 amino acids of the BRIP1 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRIP1-related disease. In summary, this is a novel frameshift variant at the C-terminal end of the BRIP1 protein, which generates a disrupted protein. However, the functional and clinical impact of this variant is unclear because the affected region is not located in a known functional domain and there are no pathogenic variants reported within the region. For these reasons, it has been classified as a Variant of Uncertain Significance.

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