rs881118
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001819.3(CHGB):āc.598A>Cā(p.Asn200His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0632 in 1,613,572 control chromosomes in the GnomAD database, including 6,376 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 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 | UniProt |
---|---|---|---|---|---|---|---|
CHGB | NM_001819.3 | c.598A>C | p.Asn200His | missense_variant | 4/5 | ENST00000378961.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CHGB | ENST00000378961.9 | c.598A>C | p.Asn200His | missense_variant | 4/5 | 1 | NM_001819.3 | P1 | |
CHGB | ENST00000455042.1 | c.538A>C | p.Asn180His | missense_variant | 5/5 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.108 AC: 16450AN: 152054Hom.: 1446 Cov.: 32
GnomAD3 exomes AF: 0.104 AC: 26201AN: 251228Hom.: 2466 AF XY: 0.0982 AC XY: 13336AN XY: 135850
GnomAD4 exome AF: 0.0585 AC: 85529AN: 1461400Hom.: 4925 Cov.: 64 AF XY: 0.0604 AC XY: 43920AN XY: 727026
GnomAD4 genome ? AF: 0.108 AC: 16486AN: 152172Hom.: 1451 Cov.: 32 AF XY: 0.111 AC XY: 8281AN XY: 74400
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at