chr14-21409898-G-C
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 1P and 6B. PP2BP4_ModerateBS2
The NM_001170629.2(CHD8):āc.2317C>Gā(p.Arg773Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000164 in 1,461,456 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 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 variant affecting the same amino acid position, but resulting in a different missense (i.e. R773Q) has been classified as Likely benign.
Frequency
Consequence
NM_001170629.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CHD8 | NM_001170629.2 | c.2317C>G | p.Arg773Gly | missense_variant | 11/38 | ENST00000646647.2 | |
CHD8 | NM_020920.4 | c.1480C>G | p.Arg494Gly | missense_variant | 11/38 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CHD8 | ENST00000646647.2 | c.2317C>G | p.Arg773Gly | missense_variant | 11/38 | NM_001170629.2 | P3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249076Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135120
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1461456Hom.: 0 Cov.: 30 AF XY: 0.0000179 AC XY: 13AN XY: 727012
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at