ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2407-2A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003474357 SCV004210859 likely pathogenic Bloom syndrome 2023-09-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004949104 SCV005544597 likely pathogenic Hereditary cancer-predisposing syndrome 2024-11-21 criteria provided, single submitter clinical testing The c.2407-2A>G intronic variant results from an A to G substitution two nucleotides upstream from coding exon 11 in the BLM gene. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site and may result in the creation or strengthening of a novel splice acceptor site. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.

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