chr16-15715181-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP2
The NM_002474.3(MYH11):āc.5596G>Cā(p.Glu1866Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,536 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E1866K) 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.5596G>C | p.Glu1866Gln | missense_variant | 39/41 | ENST00000300036.6 | |
MYH11 | NM_001040113.2 | c.5617G>C | p.Glu1873Gln | missense_variant | 40/43 | ENST00000452625.7 | |
NDE1 | NM_017668.3 | c.948-9010C>G | intron_variant | ENST00000396354.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH11 | ENST00000300036.6 | c.5596G>C | p.Glu1866Gln | missense_variant | 39/41 | 1 | NM_002474.3 | P3 | |
MYH11 | ENST00000452625.7 | c.5617G>C | p.Glu1873Gln | missense_variant | 40/43 | 1 | NM_001040113.2 | ||
NDE1 | ENST00000396354.6 | c.948-9010C>G | intron_variant | 1 | NM_017668.3 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251258Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135832
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461536Hom.: 0 Cov.: 34 AF XY: 0.00000275 AC XY: 2AN XY: 727094
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Familial thoracic aortic aneurysm and aortic dissection Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 01, 2023 | The p.E1866Q variant (also known as c.5596G>C), located in coding exon 38 of the MYH11 gene, results from a G to C substitution at nucleotide position 5596. The glutamic acid at codon 1866 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at