Variant Info - hg19

Frameshift: 22-36678811-AC-A

Gene: MYH9

pLI: 1

Haploinsufficiency: None

cHGVS: NM_002473.6:c.5785del

pHGVS: NP_002464.1:p.Val1929SerfsTer19

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 Maximum LOF population frequency in exon 41 of NM_002473.6 is 8.85e-06, lower than the threshold (0.1%) we pre-defined.

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