19-50301790-C-G
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP3BS2
The NM_001145809.2(MYH14):āc.5599C>Gā(p.Arg1867Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000496 in 1,612,388 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. R1867C) 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 -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYH14 | NM_001145809.2 | c.5599C>G | p.Arg1867Gly | missense_variant | 40/43 | ENST00000642316.2 | |
MYH14 | NM_001077186.2 | c.5500C>G | p.Arg1834Gly | missense_variant | 39/42 | ||
MYH14 | NM_024729.4 | c.5476C>G | p.Arg1826Gly | missense_variant | 38/41 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH14 | ENST00000642316.2 | c.5599C>G | p.Arg1867Gly | missense_variant | 40/43 | NM_001145809.2 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152078Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000407 AC: 1AN: 245670Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133664
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1460310Hom.: 0 Cov.: 31 AF XY: 0.00000551 AC XY: 4AN XY: 726408
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152078Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74290
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at