chr16-15745203-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP2
The NM_002474.3(MYH11):āc.2446A>Gā(p.Met816Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,461,594 control chromosomes in the GnomAD database, including 1 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. M816L) has been classified as Uncertain significance.
Frequency
Consequence
NM_002474.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYH11 | NM_002474.3 | c.2446A>G | p.Met816Val | missense_variant | 20/41 | ENST00000300036.6 | |
MYH11 | NM_001040113.2 | c.2467A>G | p.Met823Val | missense_variant | 21/43 | ENST00000452625.7 | |
MYH11 | NM_001040114.2 | c.2467A>G | p.Met823Val | missense_variant | 21/42 | ||
MYH11 | NM_022844.3 | c.2446A>G | p.Met816Val | missense_variant | 20/42 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH11 | ENST00000300036.6 | c.2446A>G | p.Met816Val | missense_variant | 20/41 | 1 | NM_002474.3 | P3 | |
MYH11 | ENST00000452625.7 | c.2467A>G | p.Met823Val | missense_variant | 21/43 | 1 | NM_001040113.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461594Hom.: 1 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 727092
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at