rs143091111
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_001199753.2(CPT1C):c.2092A>G(p.Asn698Asp) variant causes a missense change. The variant allele was found at a frequency of 0.000734 in 1,613,976 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N698S) has been classified as Uncertain significance.
Frequency
Consequence
NM_001199753.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CPT1C | NM_001199753.2 | c.2092A>G | p.Asn698Asp | missense_variant | 18/20 | ENST00000598293.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CPT1C | ENST00000598293.6 | c.2092A>G | p.Asn698Asp | missense_variant | 18/20 | 2 | NM_001199753.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000493 AC: 75AN: 151982Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.000517 AC: 130AN: 251476Hom.: 0 AF XY: 0.000508 AC XY: 69AN XY: 135914
GnomAD4 exome AF: 0.000759 AC: 1109AN: 1461876Hom.: 3 Cov.: 31 AF XY: 0.000718 AC XY: 522AN XY: 727242
GnomAD4 genome ? AF: 0.000493 AC: 75AN: 152100Hom.: 0 Cov.: 30 AF XY: 0.000417 AC XY: 31AN XY: 74356
ClinVar
Submissions by phenotype
Hereditary spastic paraplegia 73 Uncertain:1Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 07, 2024 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | Apr 25, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at