Variant Info

Frameshift: 22-36745248-CAT-C

Gene: MYH9

pLI: 1

Haploinsufficiency: na

cHGVS: NM_002473.5: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 MYH-9 related disease Autosomal Dominant Definitive No Decrease VeryStrong