chr20-5922926-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001819.3(CHGB):c.782A>G(p.Glu261Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000484 in 1,612,948 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. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001819.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CHGB | NM_001819.3 | c.782A>G | p.Glu261Gly | missense_variant | 4/5 | ENST00000378961.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CHGB | ENST00000378961.9 | c.782A>G | p.Glu261Gly | missense_variant | 4/5 | 1 | NM_001819.3 | P1 | |
CHGB | ENST00000455042.1 | c.722A>G | p.Glu241Gly | missense_variant | 5/5 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000461 AC: 7AN: 151938Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000445 AC: 11AN: 247424Hom.: 0 AF XY: 0.0000522 AC XY: 7AN XY: 134102
GnomAD4 exome AF: 0.0000486 AC: 71AN: 1461010Hom.: 0 Cov.: 62 AF XY: 0.0000468 AC XY: 34AN XY: 726756
GnomAD4 genome ? AF: 0.0000461 AC: 7AN: 151938Hom.: 0 Cov.: 31 AF XY: 0.0000269 AC XY: 2AN XY: 74240
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 22, 2024 | The c.782A>G (p.E261G) alteration is located in exon 4 (coding exon 4) of the CHGB gene. This alteration results from a A to G substitution at nucleotide position 782, causing the glutamic acid (E) at amino acid position 261 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at