chr16-15737461-G-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 1P and 2B. PP2BP4_Moderate
The NM_002474.3(MYH11):c.3281C>A(p.Ala1094Glu) variant causes a missense change. The variant allele was found at a frequency of 0.00000411 in 1,460,548 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 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. A1094T) has been classified as Uncertain significance.
Frequency
Consequence
NM_002474.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYH11 | NM_002474.3 | c.3281C>A | p.Ala1094Glu | missense_variant | 25/41 | ENST00000300036.6 | |
MYH11 | NM_001040113.2 | c.3302C>A | p.Ala1101Glu | missense_variant | 26/43 | ENST00000452625.7 | |
MYH11 | NM_001040114.2 | c.3302C>A | p.Ala1101Glu | missense_variant | 26/42 | ||
MYH11 | NM_022844.3 | c.3281C>A | p.Ala1094Glu | missense_variant | 25/42 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH11 | ENST00000300036.6 | c.3281C>A | p.Ala1094Glu | missense_variant | 25/41 | 1 | NM_002474.3 | P3 | |
MYH11 | ENST00000452625.7 | c.3302C>A | p.Ala1101Glu | missense_variant | 26/43 | 1 | NM_001040113.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250688Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135600
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1460548Hom.: 0 Cov.: 33 AF XY: 0.00000275 AC XY: 2AN XY: 726658
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at