rs55722397
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000611156.4(ABO):c.697C>G(p.Pro233Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000698 in 1,432,078 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Affects (no stars).
Frequency
Genomes: not found (cov: 33)
Exomes 𝑓: 7.0e-7 ( 0 hom. )
Consequence
ABO
ENST00000611156.4 missense
ENST00000611156.4 missense
Scores
4
6
Clinical Significance
Conservation
PhyloP100: 2.85
Publications
9 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]
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ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (MetaRNN=0.1960909).
Variant Effect in Transcripts
ACMG analysis was done for transcript: ENST00000611156.4. You can select a different transcript below to see updated ACMG assignments.
Ensembl Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| ABO | TSL:5 | c.697C>G | p.Pro233Ala | missense | Exon 8 of 8 | ENSP00000483265.1 | A0A087X0C2 | ||
| ABO | TSL:1 | n.729C>G | non_coding_transcript_exon | Exon 7 of 7 | |||||
| ABO | TSL:5 | c.697C>G | p.Pro233Ala | missense | Exon 8 of 9 | ENSP00000483018.1 | A0A087X009 |
Frequencies
GnomAD3 genomes
GnomAD3 genomes
Cov.:
33
GnomAD2 exomes AF: 0.00000505 AC: 1AN: 197854 AF XY: 0.00 show subpopulations
GnomAD2 exomes
AF:
AC:
1
AN:
197854
AF XY:
Gnomad AFR exome
AF:
Gnomad AMR exome
AF:
Gnomad ASJ exome
AF:
Gnomad EAS exome
AF:
Gnomad FIN exome
AF:
Gnomad NFE exome
AF:
Gnomad OTH exome
AF:
GnomAD4 exome AF: 6.98e-7 AC: 1AN: 1432078Hom.: 0 Cov.: 79 AF XY: 0.00 AC XY: 0AN XY: 710200 show subpopulations
GnomAD4 exome
AF:
AC:
1
AN:
1432078
Hom.:
Cov.:
79
AF XY:
AC XY:
0
AN XY:
710200
show subpopulations
African (AFR)
AF:
AC:
0
AN:
32632
American (AMR)
AF:
AC:
0
AN:
39290
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
25526
East Asian (EAS)
AF:
AC:
1
AN:
37692
South Asian (SAS)
AF:
AC:
0
AN:
82618
European-Finnish (FIN)
AF:
AC:
0
AN:
51110
Middle Eastern (MID)
AF:
AC:
0
AN:
5738
European-Non Finnish (NFE)
AF:
AC:
0
AN:
1098226
Other (OTH)
AF:
AC:
0
AN:
59246
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.475
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
GnomAD4 genome
GnomAD4 genome
Cov.:
33
Alfa
AF:
Hom.:
ClinVar
ClinVar submissions
View on ClinVar Significance:Affects
Revision:no assertion criteria provided
Pathogenic
VUS
Benign
Condition
-
-
-
ABO blood group system (1)
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Uncertain
BayesDel_addAF
Uncertain
D
BayesDel_noAF
Uncertain
DANN
Benign
DEOGEN2
Benign
T
FATHMM_MKL
Benign
D
LIST_S2
Benign
T
MetaRNN
Benign
T
PhyloP100
PrimateAI
Uncertain
T
Sift4G
Benign
T
Vest4
MVP
GERP RS
RBP_binding_hub_radar
RBP_regulation_power_radar
gMVP
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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