Variant Info - hg38

Frameshift: 22-36349203-CAT-C

Gene: MYH9

pLI: 1

Haploinsufficiency: None

cHGVS: NM_002473.6:c.32_33del

pHGVS: NP_002464.1:p.Tyr11CysfsTer3

Exon: 2/41

Intron: -/40

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
MYH9 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss AD Definitive No Decrease VeryStrong