ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.897-5A>G

dbSNP: rs1586076321
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000927067 SCV001072642 likely benign Microcephaly, normal intelligence and immunodeficiency 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002445037 SCV002682391 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-06 criteria provided, single submitter clinical testing The c.897-5A>G intronic variant results from an A to G substitution 5 nucleotides upstream from coding exon 8 in the NBN gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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