Variant Info - hg38

Frameshift: 22-36282729-TC-T

Gene: MYH9

pLI: 1

Haploinsufficiency: None

cHGVS: NM_002473.6:c.5821del

pHGVS: NP_002464.1:p.Asp1941MetfsTer7

Exon: 41/41

Intron: -/40

OMIM ClinVar gnomAD

PVS1 Flowchart

Preliminary Decision Path: NF6
  • 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
            • Moderate
#1 Neither mutational hotspot nor functional domain is found.
#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
MYH9 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss AD Definitive No Decrease Moderate