rs1050162
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM2PP2PP3_Moderate
The NM_002474.3(MYH11):āc.5439G>Cā(p.Lys1813Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. K1813K) has been classified as Likely benign.
Frequency
Consequence
NM_002474.3 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 | UniProt |
---|---|---|---|---|---|---|---|
MYH11 | NM_002474.3 | c.5439G>C | p.Lys1813Asn | missense_variant | 38/41 | ENST00000300036.6 | |
MYH11 | NM_001040113.2 | c.5460G>C | p.Lys1820Asn | missense_variant | 39/43 | ENST00000452625.7 | |
NDE1 | NM_017668.3 | c.948-6986C>G | intron_variant | ENST00000396354.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH11 | ENST00000300036.6 | c.5439G>C | p.Lys1813Asn | missense_variant | 38/41 | 1 | NM_002474.3 | P3 | |
MYH11 | ENST00000452625.7 | c.5460G>C | p.Lys1820Asn | missense_variant | 39/43 | 1 | NM_001040113.2 | ||
NDE1 | ENST00000396354.6 | c.948-6986C>G | intron_variant | 1 | NM_017668.3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 6.84e-7 AC: 1AN: 1461876Hom.: 0 Cov.: 73 AF XY: 0.00000138 AC XY: 1AN XY: 727236
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at