ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3664dup (p.Glu1222fs) (rs752586524)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546037 SCV000633686 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-11-29 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 20 of the BRIP1 mRNA (c.3664dupG), causing a frameshift at codon 1222. This creates a premature translational stop signal in the last exon of the BRIP1 mRNA (p.Glu1222Glyfs*7). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 28 amino acids of the BRIP1 protein. This variant is present in population databases (rs752586524, ExAC 0.07%). This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 461162). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown. 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.
Ambry Genetics RCV000567587 SCV000673159 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
3DMed Clinical Laboratory Inc RCV000677869 SCV000804030 uncertain significance Neoplasm of the breast 2018-01-10 no assertion criteria provided clinical testing

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