GeneBe

rs35280644

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 0.36 ( 11136 hom., cov: 0)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.162

Publications

1 publications found
Variant links:

Genome browser will be placed here

ACMG classification

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

BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.523 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:
0.356
AC:
53913
AN:
151610
Hom.:
11123
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.115
Gnomad AMI
AF:
0.333
Gnomad AMR
AF:
0.373
Gnomad ASJ
AF:
0.383
Gnomad EAS
AF:
0.539
Gnomad SAS
AF:
0.452
Gnomad FIN
AF:
0.554
Gnomad MID
AF:
0.304
Gnomad NFE
AF:
0.447
Gnomad OTH
AF:
0.341
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.356
AC:
53943
AN:
151728
Hom.:
11136
Cov.:
0
AF XY:
0.361
AC XY:
26772
AN XY:
74122
show subpopulations
African (AFR)
AF:
0.114
AC:
4738
AN:
41446
American (AMR)
AF:
0.373
AC:
5661
AN:
15182
Ashkenazi Jewish (ASJ)
AF:
0.383
AC:
1325
AN:
3464
East Asian (EAS)
AF:
0.540
AC:
2750
AN:
5094
South Asian (SAS)
AF:
0.453
AC:
2185
AN:
4828
European-Finnish (FIN)
AF:
0.554
AC:
5828
AN:
10518
Middle Eastern (MID)
AF:
0.313
AC:
92
AN:
294
European-Non Finnish (NFE)
AF:
0.447
AC:
30331
AN:
67888
Other (OTH)
AF:
0.347
AC:
731
AN:
2108
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.516
Heterozygous variant carriers
0
1590
3181
4771
6362
7952
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
540
1080
1620
2160
2700
<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:
0.391
Hom.:
1510
Asia WGS
AF:
0.507
AC:
1759
AN:
3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
0.16

Splicing

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

Publications

Other links and lift over

dbSNP: rs35280644; hg19: chr19-4886388; API