rs9001
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000315251.11(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
ENST00000315251.11 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 | P1 | |
CHDH | ENST00000481668.5 | c.119A>C | p.Glu40Ala | missense_variant | 3/3 | 2 | ENSP00000418273 | |||
CHDH | ENST00000467802.1 | c.119A>C | p.Glu40Ala | missense_variant | 3/3 | 2 | ENSP00000419863 |
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