Variant Info - hg38

Nonsense: 17-37739455-G-A

Gene: HNF1B

pLI: 0.999

Haploinsufficiency: 3

cHGVS: NM_000458.4:c.529C>T

pHGVS: NP_000449.1:p.Arg177Ter

Exon: 2/9

Intron: -/8

OMIM ClinVar gnomAD

PVS1 Flowchart

Preliminary Decision Path: NF1
  • Nonsense or Frameshift
    • Predicted to undergo NMD
      • Exon is present in
        biologically-relevant transcript(s)
        • VeryStrong

Disease Mechanism

Gene Disease Inheritance Clinical Validity Disease Mechanism Consideration Adjusted Strength
HNF1B renal cysts and diabetes syndrome AD Definitive No Decrease VeryStrong