ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3658G>T (p.Glu1220Ter) (rs1555572476)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533428 SCV000633685 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2017-05-25 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the BRIP1 (p.Glu1220*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 30 amino acids (~2%) of the BRIP1 protein. Truncating variants located in the last exon of BRIP1, or any other gene, are not necessarily pathogenic (PMID: 24274751). This variant has not been reported in the literature in individuals with a BRIP1-related disease. In summary, this variant is expected to result in a truncated protein but the impact on protein function is unclear. Currently there is insufficient evidence to conclude whether this variant causes disease. It has been classified as a Variant of Uncertain Significance.

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