GeneBe

rs34857375

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 0.56 ( 24951 hom., cov: 0)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.386

Publications

20 publications found
Variant links:

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ACMG classification

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

BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.732 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:
0.558
AC:
84640
AN:
151736
Hom.:
24889
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.738
Gnomad AMI
AF:
0.378
Gnomad AMR
AF:
0.635
Gnomad ASJ
AF:
0.473
Gnomad EAS
AF:
0.422
Gnomad SAS
AF:
0.498
Gnomad FIN
AF:
0.491
Gnomad MID
AF:
0.636
Gnomad NFE
AF:
0.461
Gnomad OTH
AF:
0.578
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.558
AC:
84764
AN:
151852
Hom.:
24951
Cov.:
0
AF XY:
0.560
AC XY:
41547
AN XY:
74196
show subpopulations
African (AFR)
AF:
0.739
AC:
30639
AN:
41474
American (AMR)
AF:
0.635
AC:
9694
AN:
15256
Ashkenazi Jewish (ASJ)
AF:
0.473
AC:
1641
AN:
3470
East Asian (EAS)
AF:
0.423
AC:
2176
AN:
5144
South Asian (SAS)
AF:
0.498
AC:
2333
AN:
4686
European-Finnish (FIN)
AF:
0.491
AC:
5187
AN:
10564
Middle Eastern (MID)
AF:
0.646
AC:
190
AN:
294
European-Non Finnish (NFE)
AF:
0.461
AC:
31335
AN:
67944
Other (OTH)
AF:
0.581
AC:
1225
AN:
2110
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.502
Heterozygous variant carriers
0
1816
3632
5449
7265
9081
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
702
1404
2106
2808
3510
<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:
0.515
Hom.:
2577
Bravo
AF:
0.574
Asia WGS
AF:
0.531
AC:
1834
AN:
3454

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
0.39

Splicing

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

Publications

Other links and lift over

dbSNP: rs1799762; hg19: chr7-100769706; API