ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2235_2236inv (p.Glu745_Asp746delinsAspTyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539904 SCV000635839 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-02-22 criteria provided, single submitter clinical testing This variant, c.2235_2236delinsCT,  is a complex sequence change that results in the deletion of glutamic acid and aspartic acid residues and the insertion of aspartic acid and tyrosine residues in the BRCA1 protein (p.Glu745_Asp746delinsAspTyr). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the substituted amino acids is currently unknown. In summary, this is a novel in-frame deletion and insertion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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