chr9-133255928-C-G
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The ENST00000538324.2(ABO):c.800G>C(p.Gly267Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0918 in 1,612,132 control chromosomes in the GnomAD database, including 9,548 homozygotes. In-silico tool predicts a benign outcome for this variant. 8/10 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G267R) has been classified as Benign.
Frequency
Consequence
ENST00000538324.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABO | NM_020469.3 | c.800G>C | p.Gly267Ala | missense_variant | 8/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABO | ENST00000538324.2 | c.800G>C | p.Gly267Ala | missense_variant | 8/9 | 5 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.115 AC: 17433AN: 151762Hom.: 1263 Cov.: 32
GnomAD3 exomes AF: 0.118 AC: 28678AN: 243428Hom.: 2310 AF XY: 0.125 AC XY: 16600AN XY: 132554
GnomAD4 exome AF: 0.0895 AC: 130626AN: 1460250Hom.: 8283 Cov.: 74 AF XY: 0.0952 AC XY: 69147AN XY: 726344
GnomAD4 genome ? AF: 0.115 AC: 17446AN: 151882Hom.: 1265 Cov.: 32 AF XY: 0.119 AC XY: 8821AN XY: 74246
ClinVar
Submissions by phenotype
Three Vessel Coronary Disease Benign:1
Benign, no assertion criteria provided | clinical testing | Department of Cardiology, Chinese Academy of Medical Sciences, Fuwai Hospital | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at