GeneBe

rs10534024

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 0.59 ( 26979 hom., cov: 0)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.407

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 (SAS) allele frequency at 95% confidence interval = 0.646 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:
0.592
AC:
89625
AN:
151516
Hom.:
26958
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.511
Gnomad AMI
AF:
0.579
Gnomad AMR
AF:
0.554
Gnomad ASJ
AF:
0.622
Gnomad EAS
AF:
0.343
Gnomad SAS
AF:
0.663
Gnomad FIN
AF:
0.747
Gnomad MID
AF:
0.571
Gnomad NFE
AF:
0.638
Gnomad OTH
AF:
0.572
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.592
AC:
89693
AN:
151634
Hom.:
26979
Cov.:
0
AF XY:
0.596
AC XY:
44120
AN XY:
74054
show subpopulations
African (AFR)
AF:
0.511
AC:
21114
AN:
41332
American (AMR)
AF:
0.554
AC:
8436
AN:
15240
Ashkenazi Jewish (ASJ)
AF:
0.622
AC:
2158
AN:
3470
East Asian (EAS)
AF:
0.342
AC:
1761
AN:
5142
South Asian (SAS)
AF:
0.665
AC:
3204
AN:
4818
European-Finnish (FIN)
AF:
0.747
AC:
7833
AN:
10490
Middle Eastern (MID)
AF:
0.573
AC:
165
AN:
288
European-Non Finnish (NFE)
AF:
0.638
AC:
43281
AN:
67834
Other (OTH)
AF:
0.575
AC:
1213
AN:
2108
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.499
Heterozygous variant carriers
0
1825
3649
5474
7298
9123
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
750
1500
2250
3000
3750
<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:
0.625
Hom.:
3612
Bravo
AF:
0.570
Asia WGS
AF:
0.510
AC:
1775
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
0.41

Splicing

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

Publications

Other links and lift over

dbSNP: rs10534024; hg19: chr17-41837505; API