ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.682-1G>T

dbSNP: rs81002831
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneKor MSA RCV000585687 SCV000693551 pathogenic Familial cancer of breast 2020-01-01 criteria provided, single submitter clinical testing This mutation occurs one base before exon 9 of the BRCA2gene. This position is highly conserved in the human and other genomes and might be involved in mRNA processing. Therefore, this mutation is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Algorithms developed to predict the effect of single base changes on mRNA splicing suggest that this variant may alter the wild type acceptor site and alter RNA splicing.
Laboratory for Genotyping Development, RIKEN RCV003159987 SCV002758119 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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