ENST00000538324.2:c.28+1179T>C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000538324.2(ABO):c.28+1179T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.832 in 152,082 control chromosomes in the GnomAD database, including 52,825 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as association (no stars).
Frequency
Consequence
ENST00000538324.2 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ABO | NM_020469.3 | c.28+1179T>C | intron_variant | Intron 1 of 7 | NP_065202.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ABO | ENST00000538324.2 | c.28+1179T>C | intron_variant | Intron 1 of 8 | 5 | ENSP00000483018.1 |
Frequencies
GnomAD3 genomes AF: 0.831 AC: 126350AN: 151964Hom.: 52759 Cov.: 30
GnomAD4 genome AF: 0.832 AC: 126475AN: 152082Hom.: 52825 Cov.: 30 AF XY: 0.834 AC XY: 61976AN XY: 74346
ClinVar
Submissions by phenotype
ABO blood group system Other:1
ABO blood group system, phenotype A1, diagnostic specificity for ABO*A1.01 and ABO*A1.02 blood group alleles (rs507666 T allele, NG_006669.2:g.6232T) -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at