GeneBe

rs36079334

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 0.61 ( 30287 hom., cov: 0)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.161

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 (EAS) allele frequency at 95% confidence interval = 0.937 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:
0.611
AC:
92594
AN:
151560
Hom.:
30249
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.811
Gnomad AMI
AF:
0.566
Gnomad AMR
AF:
0.576
Gnomad ASJ
AF:
0.464
Gnomad EAS
AF:
0.960
Gnomad SAS
AF:
0.733
Gnomad FIN
AF:
0.579
Gnomad MID
AF:
0.563
Gnomad NFE
AF:
0.477
Gnomad OTH
AF:
0.573
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.611
AC:
92690
AN:
151678
Hom.:
30287
Cov.:
0
AF XY:
0.617
AC XY:
45707
AN XY:
74126
show subpopulations
African (AFR)
AF:
0.811
AC:
33520
AN:
41326
American (AMR)
AF:
0.576
AC:
8778
AN:
15242
Ashkenazi Jewish (ASJ)
AF:
0.464
AC:
1612
AN:
3472
East Asian (EAS)
AF:
0.960
AC:
4952
AN:
5160
South Asian (SAS)
AF:
0.732
AC:
3524
AN:
4812
European-Finnish (FIN)
AF:
0.579
AC:
6062
AN:
10470
Middle Eastern (MID)
AF:
0.554
AC:
163
AN:
294
European-Non Finnish (NFE)
AF:
0.477
AC:
32354
AN:
67890
Other (OTH)
AF:
0.576
AC:
1211
AN:
2104
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.503
Heterozygous variant carriers
0
1631
3261
4892
6522
8153
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
744
1488
2232
2976
3720
<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:
0.405
Hom.:
859
Asia WGS
AF:
0.836
AC:
2902
AN:
3478

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: rs36079334; hg19: chr15-33008408; API