A: The variant NC_000020.11:g.46129378A>G in gene CD40 is classified as 'Uncertain_significance' for Hyperimmunoglobulin_M_syndrome. Molecular consequence: SO:0001619: non-coding_transcript_variant,SO:0001624: 3_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0003947,MedGen:C0272236,OMIM:PS308230. Review status: criteria provided, single submitter.