GeneBe

rs60689358

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 0.81 ( 50608 hom., cov: 0)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.286

Publications

0 publications found
Variant links:

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ACMG classification

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

BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.837 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:
0.814
AC:
123460
AN:
151582
Hom.:
50578
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.726
Gnomad AMI
AF:
0.867
Gnomad AMR
AF:
0.837
Gnomad ASJ
AF:
0.837
Gnomad EAS
AF:
0.812
Gnomad SAS
AF:
0.809
Gnomad FIN
AF:
0.933
Gnomad MID
AF:
0.807
Gnomad NFE
AF:
0.843
Gnomad OTH
AF:
0.832
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.814
AC:
123539
AN:
151700
Hom.:
50608
Cov.:
0
AF XY:
0.816
AC XY:
60547
AN XY:
74162
show subpopulations
African (AFR)
AF:
0.725
AC:
29954
AN:
41296
American (AMR)
AF:
0.838
AC:
12752
AN:
15224
Ashkenazi Jewish (ASJ)
AF:
0.837
AC:
2898
AN:
3462
East Asian (EAS)
AF:
0.812
AC:
4177
AN:
5144
South Asian (SAS)
AF:
0.809
AC:
3891
AN:
4808
European-Finnish (FIN)
AF:
0.933
AC:
9879
AN:
10592
Middle Eastern (MID)
AF:
0.796
AC:
234
AN:
294
European-Non Finnish (NFE)
AF:
0.843
AC:
57208
AN:
67862
Other (OTH)
AF:
0.834
AC:
1759
AN:
2110
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.502
Heterozygous variant carriers
0
1135
2269
3404
4538
5673
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
876
1752
2628
3504
4380
<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:
0.822
Hom.:
5528
Bravo
AF:
0.803
Asia WGS
AF:
0.831
AC:
2890
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
-0.29

Splicing

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

Publications

Other links and lift over

dbSNP: rs60689358; hg19: chr3-32817885; API