8-133614712-G-A

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1

The variant allele was found at a frequency of 0.139 in 152,040 control chromosomes in the GnomAD database, including 1,550 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.14 ( 1550 hom., cov: 32)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.48

Publications

7 publications found
Variant links:

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ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.95).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.138 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:
0.139
AC:
21063
AN:
151922
Hom.:
1550
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.138
Gnomad AMI
AF:
0.109
Gnomad AMR
AF:
0.111
Gnomad ASJ
AF:
0.207
Gnomad EAS
AF:
0.0905
Gnomad SAS
AF:
0.105
Gnomad FIN
AF:
0.191
Gnomad MID
AF:
0.193
Gnomad NFE
AF:
0.140
Gnomad OTH
AF:
0.143
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.139
AC:
21073
AN:
152040
Hom.:
1550
Cov.:
32
AF XY:
0.139
AC XY:
10343
AN XY:
74328
show subpopulations
African (AFR)
AF:
0.138
AC:
5714
AN:
41442
American (AMR)
AF:
0.110
AC:
1688
AN:
15278
Ashkenazi Jewish (ASJ)
AF:
0.207
AC:
719
AN:
3468
East Asian (EAS)
AF:
0.0902
AC:
467
AN:
5180
South Asian (SAS)
AF:
0.105
AC:
504
AN:
4816
European-Finnish (FIN)
AF:
0.191
AC:
2019
AN:
10560
Middle Eastern (MID)
AF:
0.194
AC:
57
AN:
294
European-Non Finnish (NFE)
AF:
0.140
AC:
9507
AN:
67976
Other (OTH)
AF:
0.141
AC:
299
AN:
2116
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.505
Heterozygous variant carriers
0
926
1851
2777
3702
4628
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
228
456
684
912
1140
<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:
0.136
Hom.:
2791
Bravo
AF:
0.132
Asia WGS
AF:
0.117
AC:
409
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.95
CADD
Benign
0.82
DANN
Benign
0.38
PhyloP100
-1.5

Splicing

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

Publications

Other links and lift over

dbSNP: rs2945770; hg19: chr8-134626955; API