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
PVS1 Flowchart
GT-AG splice sites
Exon skipping or use of a cryptic
splice site preserves reading frameRole 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 transcript(s)Variant removes <10% of protein
Moderate
#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 |