GeneBe

rs35694136

Variant names:

Variant summary

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

The variant allele was found at a frequency of 0.233 in 151,514 control chromosomes in the GnomAD database, including 6,676 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.23 ( 6676 hom., cov: 27)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.00

Publications

36 publications found
Variant links:

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ACMG classification

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

BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.48 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:
0.233
AC:
35207
AN:
151398
Hom.:
6644
Cov.:
27
show subpopulations
Gnomad AFR
AF:
0.456
Gnomad AMI
AF:
0.194
Gnomad AMR
AF:
0.350
Gnomad ASJ
AF:
0.137
Gnomad EAS
AF:
0.496
Gnomad SAS
AF:
0.373
Gnomad FIN
AF:
0.128
Gnomad MID
AF:
0.142
Gnomad NFE
AF:
0.0641
Gnomad OTH
AF:
0.212
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.233
AC:
35309
AN:
151514
Hom.:
6676
Cov.:
27
AF XY:
0.242
AC XY:
17922
AN XY:
74042
show subpopulations
African (AFR)
AF:
0.456
AC:
18786
AN:
41172
American (AMR)
AF:
0.351
AC:
5339
AN:
15214
Ashkenazi Jewish (ASJ)
AF:
0.137
AC:
475
AN:
3470
East Asian (EAS)
AF:
0.496
AC:
2538
AN:
5118
South Asian (SAS)
AF:
0.375
AC:
1794
AN:
4780
European-Finnish (FIN)
AF:
0.128
AC:
1352
AN:
10536
Middle Eastern (MID)
AF:
0.143
AC:
42
AN:
294
European-Non Finnish (NFE)
AF:
0.0640
AC:
4348
AN:
67918
Other (OTH)
AF:
0.218
AC:
459
AN:
2104
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.502
Heterozygous variant carriers
0
1051
2103
3154
4206
5257
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
330
660
990
1320
1650
<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:
0.0349
Hom.:
37
Bravo
AF:
0.258
Asia WGS
AF:
0.500
AC:
1734
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
0.0

Splicing

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

Publications

Other links and lift over

dbSNP: rs35694136; hg19: chr15-75039612; API