GeneBe

rs36077162

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 0.35 ( 9409 hom., cov: 0)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.00

Publications

4 publications found
Variant links:

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ACMG classification

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

BA1
GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.463 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:
0.346
AC:
52550
AN:
151708
Hom.:
9387
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.341
Gnomad AMI
AF:
0.482
Gnomad AMR
AF:
0.471
Gnomad ASJ
AF:
0.366
Gnomad EAS
AF:
0.442
Gnomad SAS
AF:
0.198
Gnomad FIN
AF:
0.311
Gnomad MID
AF:
0.354
Gnomad NFE
AF:
0.327
Gnomad OTH
AF:
0.353
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.347
AC:
52616
AN:
151826
Hom.:
9409
Cov.:
0
AF XY:
0.345
AC XY:
25593
AN XY:
74182
show subpopulations
African (AFR)
AF:
0.341
AC:
14130
AN:
41400
American (AMR)
AF:
0.472
AC:
7199
AN:
15238
Ashkenazi Jewish (ASJ)
AF:
0.366
AC:
1270
AN:
3472
East Asian (EAS)
AF:
0.443
AC:
2272
AN:
5134
South Asian (SAS)
AF:
0.196
AC:
945
AN:
4812
European-Finnish (FIN)
AF:
0.311
AC:
3283
AN:
10542
Middle Eastern (MID)
AF:
0.367
AC:
108
AN:
294
European-Non Finnish (NFE)
AF:
0.327
AC:
22226
AN:
67912
Other (OTH)
AF:
0.352
AC:
744
AN:
2112
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.496
Heterozygous variant carriers
0
1697
3395
5092
6790
8487
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
496
992
1488
1984
2480
<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:
0.346
Hom.:
1117
Bravo
AF:
0.366
Asia WGS
AF:
0.304
AC:
1061
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: rs36077162; hg19: chr11-118551226; API