Variant Info - hg19

Nonsense: X-82763936-A-T

Gene: POU3F4

pLI: 0.72

Haploinsufficiency: None

cHGVS: NM_000307.5:c.604A>T

pHGVS: NP_000298.3:p.Lys202Ter

Exon: 1/1

Intron: -/0

OMIM ClinVar gnomAD

PVS1 Flowchart

Preliminary Decision Path: NF5
  • Nonsense or Frameshift
    • Not predict to undergo NMD
      • Role of region in protein
        function is unknown #1
        • LoF variants in this exon are
          not frequent in the general population #2 and
          exon is present in biologically-relevant transcripts
          • Variant removes >10% of protein
            • Strong
#1 2 ClinVar pathogenic missense variant(s) and 1 benign missense variant(s) are found in POU-specific domain (amino acids 186-260 on protein P49335).
#2 No LOF variant is found or the LOF variant dosen't exist in gnomAD.

Disease Mechanism

Gene Disease Inheritance Clinical Validity Disease Mechanism Consideration Adjusted Strength
POU3F4 nonsyndromic genetic deafness XL Definitive No Decrease Strong