19-50271473-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001145809.2(MYH14):c.3098C>A(p.Thr1033Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,455,816 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. T1033M) has been classified as Likely benign.
Frequency
Consequence
NM_001145809.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYH14 | NM_001145809.2 | c.3098C>A | p.Thr1033Lys | missense_variant | 25/43 | ENST00000642316.2 | |
MYH14 | NM_001077186.2 | c.2999C>A | p.Thr1000Lys | missense_variant | 24/42 | ||
MYH14 | NM_024729.4 | c.2975C>A | p.Thr992Lys | missense_variant | 23/41 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH14 | ENST00000642316.2 | c.3098C>A | p.Thr1033Lys | missense_variant | 25/43 | NM_001145809.2 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1455816Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 723508
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at