GeneBe

chr10-70171117-C-CA

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 0.94 ( 66588 hom., cov: 0)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.691

Publications

2 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 = 0.968 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:
0.936
AC:
141981
AN:
151694
Hom.:
66533
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.955
Gnomad AMI
AF:
0.988
Gnomad AMR
AF:
0.943
Gnomad ASJ
AF:
0.903
Gnomad EAS
AF:
0.991
Gnomad SAS
AF:
0.904
Gnomad FIN
AF:
0.951
Gnomad MID
AF:
0.858
Gnomad NFE
AF:
0.920
Gnomad OTH
AF:
0.923
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.936
AC:
142095
AN:
151812
Hom.:
66588
Cov.:
0
AF XY:
0.937
AC XY:
69466
AN XY:
74162
show subpopulations
African (AFR)
AF:
0.955
AC:
39544
AN:
41394
American (AMR)
AF:
0.943
AC:
14391
AN:
15266
Ashkenazi Jewish (ASJ)
AF:
0.903
AC:
3135
AN:
3470
East Asian (EAS)
AF:
0.991
AC:
5104
AN:
5152
South Asian (SAS)
AF:
0.904
AC:
4336
AN:
4796
European-Finnish (FIN)
AF:
0.951
AC:
9989
AN:
10508
Middle Eastern (MID)
AF:
0.857
AC:
252
AN:
294
European-Non Finnish (NFE)
AF:
0.920
AC:
62495
AN:
67910
Other (OTH)
AF:
0.923
AC:
1948
AN:
2110
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.507
Heterozygous variant carriers
0
461
921
1382
1842
2303
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
906
1812
2718
3624
4530
<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:
0.929
Hom.:
8006
Bravo
AF:
0.935
Asia WGS
AF:
0.950
AC:
3305
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
-0.69

Splicing

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

Publications

Other links and lift over

dbSNP: rs11438971; hg19: chr10-71930873; API