rs514659

Variant names:

• chr9-133266790-C-A
• rs514659
• ENST00000611156.4:c.29-4622G>T

Your query was ambiguous. Multiple possible variants found:

• chr9-133266790-C-A
• chr9-133266790-C-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000611156.4(ABO):​c.29-4622G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.616 in 152,040 control chromosomes in the GnomAD database, including 29,136 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.62 (29136 hom., cov: 33)
• Consequence: ABO ENST00000611156.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.973
• Publications: 87 publications found

Genes affected

ABO (HGNC:79): (ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase) This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Apr 2022]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (Cadd=0.57).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.704 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000611156.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ABO	NR_198898.1		n.41-4622G>T		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ABO	ENST00000611156.4	TSL:5	c.29-4622G>T		intron	N/A	ENSP00000483265.1	A0A087X0C2
	ABO	ENST00000453660.4	TSL:1	n.59-4622G>T		intron	N/A
	ABO	ENST00000538324.2	TSL:5	c.29-4622G>T		intron	N/A	ENSP00000483018.1	A0A087X009

Frequencies

GnomAD3 genomes AF: 0.616 AC: 93565 AN: 151922 Hom.: 29114 Cov.: 33

Gnomad AFR AF: 0.549

Gnomad AMI AF: 0.349

Gnomad AMR AF: 0.715

Gnomad ASJ AF: 0.574

Gnomad EAS AF: 0.614

Gnomad SAS AF: 0.564

Gnomad FIN AF: 0.539

Gnomad MID AF: 0.652

Gnomad NFE AF: 0.655

Gnomad OTH AF: 0.630

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.616 AC: 93628 AN: 152040 Hom.: 29136 Cov.: 33 AF XY: 0.614 AC XY: 45628 AN XY: 74330

African (AFR) AF: 0.548 AC: 22755 AN: 41486

American (AMR) AF: 0.715 AC: 10925 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.574 AC: 1993 AN: 3472

East Asian (EAS) AF: 0.614 AC: 3177 AN: 5172

South Asian (SAS) AF: 0.564 AC: 2718 AN: 4820

European-Finnish (FIN) AF: 0.539 AC: 5675 AN: 10532

Middle Eastern (MID) AF: 0.667 AC: 196 AN: 294

European-Non Finnish (NFE) AF: 0.655 AC: 44537 AN: 67968

Other (OTH) AF: 0.633 AC: 1335 AN: 2110

Alfa AF: 0.640 Hom.: 83005

Bravo AF: 0.630

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
CADD	Benign	0.57
PhyloP100		-0.97

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs514659;