rs75915336
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001145809.2(MYH14):c.2041G>A(p.Gly681Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000143 in 1,398,014 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Benignin ClinVar.
Frequency
Consequence
NM_001145809.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYH14 | NM_001145809.2 | c.2041G>A | p.Gly681Arg | missense_variant | 17/43 | ENST00000642316.2 | |
MYH14 | NM_001077186.2 | c.1946-1984G>A | intron_variant | ||||
MYH14 | NM_024729.4 | c.1922-1984G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH14 | ENST00000642316.2 | c.2041G>A | p.Gly681Arg | missense_variant | 17/43 | NM_001145809.2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000130 AC: 2AN: 153548Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 81522
GnomAD4 exome AF: 0.00000143 AC: 2AN: 1398014Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 689628
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at