rs9001
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_018397.5(CHDH):āc.119A>Cā(p.Glu40Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.115 in 1,580,680 control chromosomes in the GnomAD database, including 15,388 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_018397.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CHDH | NM_018397.5 | c.119A>C | p.Glu40Ala | missense_variant | 3/9 | ENST00000315251.11 | NP_060867.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CHDH | ENST00000315251.11 | c.119A>C | p.Glu40Ala | missense_variant | 3/9 | 1 | NM_018397.5 | ENSP00000319851.5 | ||
CHDH | ENST00000481668.5 | c.119A>C | p.Glu40Ala | missense_variant | 3/3 | 2 | ENSP00000418273.1 | |||
CHDH | ENST00000467802.1 | c.119A>C | p.Glu40Ala | missense_variant | 3/3 | 2 | ENSP00000419863.1 |
Frequencies
GnomAD3 genomes AF: 0.175 AC: 26559AN: 152040Hom.: 3204 Cov.: 35
GnomAD3 exomes AF: 0.153 AC: 29276AN: 191492Hom.: 3089 AF XY: 0.142 AC XY: 15128AN XY: 106746
GnomAD4 exome AF: 0.108 AC: 154449AN: 1428518Hom.: 12174 Cov.: 36 AF XY: 0.108 AC XY: 76651AN XY: 709976
GnomAD4 genome AF: 0.175 AC: 26600AN: 152162Hom.: 3214 Cov.: 35 AF XY: 0.179 AC XY: 13299AN XY: 74380
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at