ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.380-5A>G (rs587782131)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130674 SCV000185560 uncertain significance Hereditary cancer-predisposing syndrome 2018-02-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000130674 SCV000903771 likely benign Hereditary cancer-predisposing syndrome 2015-07-27 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000547580 SCV000895118 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000547580 SCV000633692 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-11-29 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the BRIP1 gene. It does not directly change the encoded amino acid sequence of the BRIP1 protein. This variant is present in population databases (rs587782131, ExAC 0.0017%). This variant has not been reported in the literature in individuals with a BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 141947). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant has uncertain impact on BRIP1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mendelics RCV000709564 SCV000839400 uncertain significance Fanconi anemia, complementation group J 2018-07-02 criteria provided, single submitter clinical testing

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