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

• 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