chr16-15721562-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM2PP2PP3_Moderate
The ENST00000300036.6(MYH11):c.4438G>A(p.Glu1480Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000124 in 1,614,116 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. E1480Q) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000300036.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYH11 | NM_002474.3 | c.4438G>A | p.Glu1480Lys | missense_variant | 32/41 | ENST00000300036.6 | NP_002465.1 | |
MYH11 | NM_001040113.2 | c.4459G>A | p.Glu1487Lys | missense_variant | 33/43 | ENST00000452625.7 | NP_001035202.1 | |
NDE1 | NM_017668.3 | c.948-2629C>T | intron_variant | ENST00000396354.6 | NP_060138.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MYH11 | ENST00000300036.6 | c.4438G>A | p.Glu1480Lys | missense_variant | 32/41 | 1 | NM_002474.3 | ENSP00000300036 | P3 | |
MYH11 | ENST00000452625.7 | c.4459G>A | p.Glu1487Lys | missense_variant | 33/43 | 1 | NM_001040113.2 | ENSP00000407821 | ||
NDE1 | ENST00000396354.6 | c.948-2629C>T | intron_variant | 1 | NM_017668.3 | ENSP00000379642 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152222Hom.: 0 Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461894Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727248
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152222Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74364
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at