rs742711
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001819.3(CHGB):c.1250G>A(p.Arg417His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.271 in 1,613,774 control chromosomes in the GnomAD database, including 61,967 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 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_001819.3 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 |
---|---|---|---|---|---|---|---|---|
CHGB | NM_001819.3 | c.1250G>A | p.Arg417His | missense_variant | 4/5 | ENST00000378961.9 | NP_001810.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CHGB | ENST00000378961.9 | c.1250G>A | p.Arg417His | missense_variant | 4/5 | 1 | NM_001819.3 | ENSP00000368244.4 |
Frequencies
GnomAD3 genomes AF: 0.233 AC: 35368AN: 151916Hom.: 4803 Cov.: 31
GnomAD3 exomes AF: 0.279 AC: 70062AN: 250998Hom.: 10559 AF XY: 0.276 AC XY: 37444AN XY: 135686
GnomAD4 exome AF: 0.275 AC: 402435AN: 1461740Hom.: 57158 Cov.: 42 AF XY: 0.275 AC XY: 199703AN XY: 727172
GnomAD4 genome AF: 0.233 AC: 35402AN: 152034Hom.: 4809 Cov.: 31 AF XY: 0.236 AC XY: 17574AN XY: 74314
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at