ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3088_3096dup (p.Ala1030_Ser1032dup) (rs1187782159)

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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 RCV000570681 SCV000668886 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Insufficient evidence
Invitae RCV000688959 SCV000816591 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-12-17 criteria provided, single submitter clinical testing This variant, c.3088_3096dupGCCTCTAGT, results in the insertion of 3 amino acids to the BRIP1 protein (p.Ala1030_Ser1032dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 483148). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated 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.

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