Variant Info - hg38

Splice-3: 22-36282786-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 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