Variant Info - hg19
Frameshift: 22-36678817-GGCAGGTCCCC-G
Gene: MYH9
pLI: 1
Haploinsufficiency: None
cHGVS: NM_002473.6:c.5770_5779del
pHGVS: NP_002464.1:p.Gly1924ArgfsTer21
Exon: 41/41
Intron: -/40
PVS1 Flowchart
Nonsense or Frameshift
Not predict to undergo NMD
Role of region in protein
function is unknown #1LoF variants in this exon are
not frequent in the general population #2 and
exon is present in biologically-relevant transcriptsVariant removes <10% of protein
Moderate
#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 |