GeneBe

rs71486745

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 0.138 in 152,062 control chromosomes in the GnomAD database, including 1,906 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.14 ( 1906 hom., cov: 29)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.471

Publications

1 publications found
Variant links:

Genome browser will be placed here

ACMG classification

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

BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.304 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:
0.138
AC:
20991
AN:
151944
Hom.:
1903
Cov.:
29
show subpopulations
Gnomad AFR
AF:
0.0368
Gnomad AMI
AF:
0.201
Gnomad AMR
AF:
0.125
Gnomad ASJ
AF:
0.140
Gnomad EAS
AF:
0.305
Gnomad SAS
AF:
0.317
Gnomad FIN
AF:
0.194
Gnomad MID
AF:
0.0918
Gnomad NFE
AF:
0.168
Gnomad OTH
AF:
0.126
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.138
AC:
20998
AN:
152062
Hom.:
1906
Cov.:
29
AF XY:
0.143
AC XY:
10614
AN XY:
74304
show subpopulations
African (AFR)
AF:
0.0367
AC:
1524
AN:
41532
American (AMR)
AF:
0.125
AC:
1909
AN:
15260
Ashkenazi Jewish (ASJ)
AF:
0.140
AC:
485
AN:
3470
East Asian (EAS)
AF:
0.305
AC:
1568
AN:
5146
South Asian (SAS)
AF:
0.317
AC:
1527
AN:
4810
European-Finnish (FIN)
AF:
0.194
AC:
2050
AN:
10558
Middle Eastern (MID)
AF:
0.0918
AC:
27
AN:
294
European-Non Finnish (NFE)
AF:
0.168
AC:
11449
AN:
67966
Other (OTH)
AF:
0.131
AC:
276
AN:
2114
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.496
Heterozygous variant carriers
0
848
1695
2543
3390
4238
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
254
508
762
1016
1270
<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:
0.146
Hom.:
228
Bravo
AF:
0.125
Asia WGS
AF:
0.292
AC:
1016
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
-0.47

Splicing

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

Publications

Other links and lift over

dbSNP: rs71486745; hg19: chr10-96695774; API