rs507666
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_020469.3(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
NM_020469.3 intron
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 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