GeneBe

rs35667964

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 0.75 ( 46012 hom., cov: 0)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.556

Publications

1 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 = 0.911 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:
0.754
AC:
114464
AN:
151810
Hom.:
46022
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.509
Gnomad AMI
AF:
0.891
Gnomad AMR
AF:
0.702
Gnomad ASJ
AF:
0.938
Gnomad EAS
AF:
0.387
Gnomad SAS
AF:
0.666
Gnomad FIN
AF:
0.876
Gnomad MID
AF:
0.867
Gnomad NFE
AF:
0.917
Gnomad OTH
AF:
0.786
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.753
AC:
114472
AN:
151928
Hom.:
46012
Cov.:
0
AF XY:
0.747
AC XY:
55483
AN XY:
74270
show subpopulations
African (AFR)
AF:
0.508
AC:
21037
AN:
41392
American (AMR)
AF:
0.702
AC:
10706
AN:
15258
Ashkenazi Jewish (ASJ)
AF:
0.938
AC:
3256
AN:
3470
East Asian (EAS)
AF:
0.387
AC:
1993
AN:
5154
South Asian (SAS)
AF:
0.666
AC:
3203
AN:
4810
European-Finnish (FIN)
AF:
0.876
AC:
9264
AN:
10570
Middle Eastern (MID)
AF:
0.867
AC:
255
AN:
294
European-Non Finnish (NFE)
AF:
0.917
AC:
62301
AN:
67964
Other (OTH)
AF:
0.782
AC:
1646
AN:
2106
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.501
Heterozygous variant carriers
0
1128
2256
3383
4511
5639
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
822
1644
2466
3288
4110
<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:
0.741
Hom.:
1758
Asia WGS
AF:
0.513
AC:
1788
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
-0.56

Splicing

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

Publications

Other links and lift over

dbSNP: rs35667964; hg19: chr2-84078684; API