chr16-15838220-C-A
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 1P and 12B. PP2BP4_StrongBP6_Very_Strong
The ENST00000300036.6(MYH11):c.33G>T(p.Glu11Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000142 in 1,614,122 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Another nucleotide change resulting in same amino acid change has been previously reported as Uncertain significancein ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E11V) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000300036.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYH11 | NM_002474.3 | c.33G>T | p.Glu11Asp | missense_variant | 2/41 | ENST00000300036.6 | NP_002465.1 | |
MYH11 | NM_001040113.2 | c.33G>T | p.Glu11Asp | missense_variant | 2/43 | ENST00000452625.7 | NP_001035202.1 | |
MYH11 | NM_001040114.2 | c.33G>T | p.Glu11Asp | missense_variant | 2/42 | NP_001035203.1 | ||
MYH11 | NM_022844.3 | c.33G>T | p.Glu11Asp | missense_variant | 2/42 | NP_074035.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MYH11 | ENST00000300036.6 | c.33G>T | p.Glu11Asp | missense_variant | 2/41 | 1 | NM_002474.3 | ENSP00000300036 | P3 | |
MYH11 | ENST00000452625.7 | c.33G>T | p.Glu11Asp | missense_variant | 2/43 | 1 | NM_001040113.2 | ENSP00000407821 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152124Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000682 AC: 17AN: 249320Hom.: 0 AF XY: 0.0000667 AC XY: 9AN XY: 134962
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1461880Hom.: 0 Cov.: 32 AF XY: 0.0000151 AC XY: 11AN XY: 727244
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152242Hom.: 0 Cov.: 31 AF XY: 0.0000269 AC XY: 2AN XY: 74424
ClinVar
Submissions by phenotype
Familial thoracic aortic aneurysm and aortic dissection Benign:2
Likely benign, criteria provided, single submitter | clinical testing | All of Us Research Program, National Institutes of Health | Jan 11, 2024 | - - |
Likely benign, criteria provided, single submitter | clinical testing | Color Diagnostics, LLC DBA Color Health | Dec 06, 2018 | - - |
Aortic aneurysm, familial thoracic 4 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Aug 05, 2023 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Mar 18, 2020 | This variant is associated with the following publications: (PMID: 30056620) - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at