ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2379+1G>T (rs1555590286)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780048 SCV000917068 likely pathogenic Familial cancer of breast 2017-09-01 criteria provided, single submitter clinical testing Variant summary: The BRIP1 c.2379+1G>T variant involves the alteration of a conserved intronic nucleotide and 4/5 splice prediction tools predict the loss of a splice site. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 121274 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Taken together, this variant is classified as likely pathogenic.

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