GeneBe

rs11313889

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 0.64 ( 31663 hom., cov: 0)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.00

Publications

3 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 = 0.825 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:
0.638
AC:
96952
AN:
151942
Hom.:
31655
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.500
Gnomad AMI
AF:
0.423
Gnomad AMR
AF:
0.760
Gnomad ASJ
AF:
0.742
Gnomad EAS
AF:
0.847
Gnomad SAS
AF:
0.761
Gnomad FIN
AF:
0.653
Gnomad MID
AF:
0.728
Gnomad NFE
AF:
0.664
Gnomad OTH
AF:
0.676
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.638
AC:
97008
AN:
152060
Hom.:
31663
Cov.:
0
AF XY:
0.646
AC XY:
48015
AN XY:
74324
show subpopulations
African (AFR)
AF:
0.500
AC:
20717
AN:
41464
American (AMR)
AF:
0.761
AC:
11637
AN:
15296
Ashkenazi Jewish (ASJ)
AF:
0.742
AC:
2572
AN:
3468
East Asian (EAS)
AF:
0.846
AC:
4379
AN:
5178
South Asian (SAS)
AF:
0.761
AC:
3673
AN:
4824
European-Finnish (FIN)
AF:
0.653
AC:
6901
AN:
10574
Middle Eastern (MID)
AF:
0.731
AC:
215
AN:
294
European-Non Finnish (NFE)
AF:
0.664
AC:
45098
AN:
67940
Other (OTH)
AF:
0.677
AC:
1432
AN:
2114
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.505
Heterozygous variant carriers
0
1725
3450
5176
6901
8626
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
794
1588
2382
3176
3970
<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:
0.648
Hom.:
3889
Bravo
AF:
0.641
Asia WGS
AF:
0.783
AC:
2725
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: rs11313889; hg19: chr12-12506183; API