GeneBe

rs168

Variant names:

Variant summary

Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BA1

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.85 ( 55271 hom., cov: 0)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.481

Publications

5 publications found
Variant links:

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ACMG classification

Our verdict: Benign. The variant received -8 ACMG points.

BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.931 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:
0.849
AC:
129130
AN:
152030
Hom.:
55204
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.938
Gnomad AMI
AF:
0.709
Gnomad AMR
AF:
0.870
Gnomad ASJ
AF:
0.804
Gnomad EAS
AF:
0.836
Gnomad SAS
AF:
0.932
Gnomad FIN
AF:
0.768
Gnomad MID
AF:
0.908
Gnomad NFE
AF:
0.802
Gnomad OTH
AF:
0.855
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.850
AC:
129256
AN:
152146
Hom.:
55271
Cov.:
0
AF XY:
0.851
AC XY:
63324
AN XY:
74368
show subpopulations
African (AFR)
AF:
0.939
AC:
38991
AN:
41542
American (AMR)
AF:
0.870
AC:
13308
AN:
15292
Ashkenazi Jewish (ASJ)
AF:
0.804
AC:
2787
AN:
3468
East Asian (EAS)
AF:
0.836
AC:
4333
AN:
5180
South Asian (SAS)
AF:
0.932
AC:
4501
AN:
4828
European-Finnish (FIN)
AF:
0.768
AC:
8110
AN:
10556
Middle Eastern (MID)
AF:
0.901
AC:
265
AN:
294
European-Non Finnish (NFE)
AF:
0.802
AC:
54512
AN:
67970
Other (OTH)
AF:
0.856
AC:
1807
AN:
2110
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.503
Heterozygous variant carriers
0
998
1996
2993
3991
4989
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
890
1780
2670
3560
4450
<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:
0.832
Hom.:
6425
Bravo
AF:
0.858
Asia WGS
AF:
0.890
AC:
3097
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
-0.48

Splicing

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

Publications

Other links and lift over

dbSNP: rs168; hg19: chr7-25046771; API