2-232515231-G-A
Variant names:
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The variant allele was found at a frequency of 0.175 in 151,968 control chromosomes in the GnomAD database, including 2,466 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 0.18 ( 2466 hom., cov: 31)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.159
Publications
17 publications found
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.9).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.194 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes AF: 0.175 AC: 26590AN: 151848Hom.: 2464 Cov.: 31 show subpopulations
GnomAD3 genomes
AF:
AC:
26590
AN:
151848
Hom.:
Cov.:
31
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.175 AC: 26595AN: 151968Hom.: 2466 Cov.: 31 AF XY: 0.172 AC XY: 12750AN XY: 74280 show subpopulations
GnomAD4 genome
AF:
AC:
26595
AN:
151968
Hom.:
Cov.:
31
AF XY:
AC XY:
12750
AN XY:
74280
show subpopulations
African (AFR)
AF:
AC:
8195
AN:
41416
American (AMR)
AF:
AC:
2271
AN:
15280
Ashkenazi Jewish (ASJ)
AF:
AC:
499
AN:
3468
East Asian (EAS)
AF:
AC:
130
AN:
5172
South Asian (SAS)
AF:
AC:
689
AN:
4812
European-Finnish (FIN)
AF:
AC:
1565
AN:
10574
Middle Eastern (MID)
AF:
AC:
46
AN:
292
European-Non Finnish (NFE)
AF:
AC:
12646
AN:
67942
Other (OTH)
AF:
AC:
387
AN:
2104
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.506
Heterozygous variant carriers
0
1105
2210
3316
4421
5526
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
Variant carriers
0
288
576
864
1152
1440
<30
30-35
35-40
40-45
45-50
50-55
55-60
60-65
65-70
70-75
75-80
>80
Age
Alfa
AF:
Hom.:
Bravo
AF:
Asia WGS
AF:
AC:
361
AN:
3478
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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