GeneBe

20-45173013-C-CATATA

Variant names:

Variant summary

Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BA1

The variant allele was found at a frequency of 0.275 in 151,786 control chromosomes in the GnomAD database, including 6,889 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.27 ( 6889 hom., cov: 21)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 1.49

Publications

0 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 = 0.471 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:
0.274
AC:
41601
AN:
151672
Hom.:
6863
Cov.:
21
show subpopulations
Gnomad AFR
AF:
0.476
Gnomad AMI
AF:
0.312
Gnomad AMR
AF:
0.229
Gnomad ASJ
AF:
0.232
Gnomad EAS
AF:
0.103
Gnomad SAS
AF:
0.163
Gnomad FIN
AF:
0.232
Gnomad MID
AF:
0.272
Gnomad NFE
AF:
0.192
Gnomad OTH
AF:
0.272
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.275
AC:
41687
AN:
151786
Hom.:
6889
Cov.:
21
AF XY:
0.275
AC XY:
20392
AN XY:
74190
show subpopulations
African (AFR)
AF:
0.476
AC:
19648
AN:
41258
American (AMR)
AF:
0.229
AC:
3503
AN:
15268
Ashkenazi Jewish (ASJ)
AF:
0.232
AC:
806
AN:
3470
East Asian (EAS)
AF:
0.103
AC:
535
AN:
5178
South Asian (SAS)
AF:
0.164
AC:
790
AN:
4814
European-Finnish (FIN)
AF:
0.232
AC:
2441
AN:
10530
Middle Eastern (MID)
AF:
0.284
AC:
83
AN:
292
European-Non Finnish (NFE)
AF:
0.192
AC:
13019
AN:
67956
Other (OTH)
AF:
0.274
AC:
578
AN:
2110
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.499
Heterozygous variant carriers
0
1414
2828
4243
5657
7071
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
396
792
1188
1584
1980
<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:
0.107
Hom.:
125
Asia WGS
AF:
0.142
AC:
495
AN:
3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
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: rs60717610; hg19: chr20-43801654; API