Variant Info - hg19

Splice-3: 22-36678832-C-CTGGGGGCAGAGG

Gene: MYH9

pLI: 1

Haploinsufficiency: None

cHGVS: NM_002473.6:c.5766-13_5766-2dup

pHGVS: -

Exon: -/41

Intron: 40/40

OMIM ClinVar gnomAD

PVS1 Flowchart

Preliminary Decision Path: SS9
  • GT-AG splice sites
    • Exon skipping or use of a cryptic
      splice site preserves reading frame
      • 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 transcript(s)
          • Variant removes <10% of protein
            • Moderate
#1 NA
#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