ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3728_3730delinsTCC (p.Gly1243_Met1244delinsValLeu) (rs1555572426)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000636162 SCV000757594 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2019-10-26 criteria provided, single submitter clinical testing This variant, c.3728_3730delinsTCC, is a complex sequence change that results in the deletion of 2 amino acids and insertion of another 2 amino acids of the BRIP1 protein (p.Gly1243_Met1244delinsValLeu ). This variant is reported as two separate single-nucleotide changes in population databases (c.3728G>T, ExAC 0.002% and c.3730A>C, ExAC 0.002%). However, in the read data for 1/120838 individuals displayed in the ExAC browser, these two variants are in cis. This recapitulates the variant observed here (c.3728_3730delinsTCC) and indicates that this variant is very likely present in the population databases at 0.002%. This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 530345). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the altered 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.
Color RCV001190395 SCV001357861 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-23 criteria provided, single submitter clinical testing

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