GeneBe

rs35864111

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 0.60 ( 28121 hom., cov: 0)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.536

Publications

6 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 = 0.782 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:
0.597
AC:
90313
AN:
151200
Hom.:
28091
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.789
Gnomad AMI
AF:
0.279
Gnomad AMR
AF:
0.613
Gnomad ASJ
AF:
0.538
Gnomad EAS
AF:
0.726
Gnomad SAS
AF:
0.555
Gnomad FIN
AF:
0.446
Gnomad MID
AF:
0.538
Gnomad NFE
AF:
0.501
Gnomad OTH
AF:
0.617
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.597
AC:
90401
AN:
151318
Hom.:
28121
Cov.:
0
AF XY:
0.595
AC XY:
43960
AN XY:
73878
show subpopulations
African (AFR)
AF:
0.789
AC:
32479
AN:
41172
American (AMR)
AF:
0.613
AC:
9341
AN:
15244
Ashkenazi Jewish (ASJ)
AF:
0.538
AC:
1865
AN:
3468
East Asian (EAS)
AF:
0.726
AC:
3720
AN:
5122
South Asian (SAS)
AF:
0.553
AC:
2651
AN:
4796
European-Finnish (FIN)
AF:
0.446
AC:
4627
AN:
10372
Middle Eastern (MID)
AF:
0.554
AC:
163
AN:
294
European-Non Finnish (NFE)
AF:
0.501
AC:
34009
AN:
67848
Other (OTH)
AF:
0.618
AC:
1292
AN:
2092
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.489
Heterozygous variant carriers
0
1674
3348
5023
6697
8371
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
742
1484
2226
2968
3710
<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:
0.448
Hom.:
940
Asia WGS
AF:
0.611
AC:
2123
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
0.54

Splicing

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

Publications

Other links and lift over

dbSNP: rs35864111; hg19: chr6-43736537; API