11-68784909-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001876.4(CPT1A):c.1069C>A(p.Arg357=) variant causes a synonymous change. The variant allele was found at a frequency of 0.000000684 in 1,461,716 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.
Frequency
Consequence
NM_001876.4 synonymous
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 |
---|---|---|---|---|---|---|---|
CPT1A | NM_001876.4 | c.1069C>A | p.Arg357= | synonymous_variant | 10/19 | ENST00000265641.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CPT1A | ENST00000265641.10 | c.1069C>A | p.Arg357= | synonymous_variant | 10/19 | 1 | NM_001876.4 | P1 | |
CPT1A | ENST00000376618.6 | c.1069C>A | p.Arg357= | synonymous_variant | 10/19 | 1 | |||
CPT1A | ENST00000540367.5 | c.1069C>A | p.Arg357= | synonymous_variant | 9/18 | 1 | |||
CPT1A | ENST00000539743.5 | c.1069C>A | p.Arg357= | synonymous_variant | 9/18 | 5 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461716Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727158
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.