A: The variant NC_000022.11:g.50721176C>T in gene SHANK3 is classified as 'Likely_pathogenic' for Phelan-McDermid_syndrome. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0011652,MedGen:C1853490,OMIM:606232,Orphanet:48652. Review status: criteria provided, single submitter.