Variant Info

Nonsense: X-82763936-A-T

Gene: POU3F4

pLI: 0.72

Haploinsufficiency: na

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 X-Linked Definitive No Decrease Strong