rs376267080
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BP4
The NM_001145809.2(MYH14):c.1918C>G(p.Arg640Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000138 in 1,595,452 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict 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. R640Q) has been classified as Likely benign.
Frequency
Consequence
NM_001145809.2 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 |
---|---|---|---|---|---|---|---|
MYH14 | NM_001145809.2 | c.1918C>G | p.Arg640Gly | missense_variant | 16/43 | ENST00000642316.2 | |
MYH14 | NM_001077186.2 | c.1918C>G | p.Arg640Gly | missense_variant | 16/42 | ||
MYH14 | NM_024729.4 | c.1894C>G | p.Arg632Gly | missense_variant | 15/41 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH14 | ENST00000642316.2 | c.1918C>G | p.Arg640Gly | missense_variant | 16/43 | NM_001145809.2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152162Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000183 AC: 4AN: 218474Hom.: 0 AF XY: 0.0000339 AC XY: 4AN XY: 117932
GnomAD4 exome AF: 0.0000132 AC: 19AN: 1443290Hom.: 0 Cov.: 30 AF XY: 0.0000154 AC XY: 11AN XY: 716216
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152162Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74326
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at