11-68775398-T-G
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001876.4(CPT1A):āc.1493A>Cā(p.Tyr498Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,461,884 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.
Frequency
Consequence
NM_001876.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CPT1A | NM_001876.4 | c.1493A>C | p.Tyr498Ser | missense_variant | Exon 13 of 19 | ENST00000265641.10 | NP_001867.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CPT1A | ENST00000265641.10 | c.1493A>C | p.Tyr498Ser | missense_variant | Exon 13 of 19 | 1 | NM_001876.4 | ENSP00000265641.4 | ||
CPT1A | ENST00000376618.6 | c.1493A>C | p.Tyr498Ser | missense_variant | Exon 13 of 19 | 1 | ENSP00000365803.2 | |||
CPT1A | ENST00000540367.5 | c.1493A>C | p.Tyr498Ser | missense_variant | Exon 12 of 18 | 1 | ENSP00000439084.1 | |||
CPT1A | ENST00000539743.5 | c.1493A>C | p.Tyr498Ser | missense_variant | Exon 12 of 18 | 5 | ENSP00000446108.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461884Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 727242
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.