rs80338830
Variant summary
Our verdict is Likely pathogenic. Variant got 9 ACMG points: 9P and 0B. PM2PM5PP2PP3_Strong
The NM_002473.6(MYH9):c.3494G>T(p.Arg1165Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 12/21 in silico tools predict a damaging outcome for this variant. Variant has been reported in ClinVar as not provided (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R1165C) has been classified as Pathogenic.
Frequency
Consequence
NM_002473.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYH9 | NM_002473.6 | c.3494G>T | p.Arg1165Leu | missense_variant | 27/41 | ENST00000216181.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH9 | ENST00000216181.11 | c.3494G>T | p.Arg1165Leu | missense_variant | 27/41 | 1 | NM_002473.6 | P1 | |
MYH9 | ENST00000685801.1 | c.3557G>T | p.Arg1186Leu | missense_variant | 28/42 | ||||
MYH9 | ENST00000691109.1 | n.3789G>T | non_coding_transcript_exon_variant | 21/35 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Other:1
not provided, no classification provided | literature only | GeneReviews | - | Associated with high risk for hearing loss and low risk for nephropathy and cataract - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at