GeneBe

rs1610940

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 0.31 ( 8149 hom., cov: 0)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.340

Publications

1 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 = 0.47 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:
0.313
AC:
47504
AN:
151792
Hom.:
8136
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.448
Gnomad AMI
AF:
0.295
Gnomad AMR
AF:
0.279
Gnomad ASJ
AF:
0.322
Gnomad EAS
AF:
0.486
Gnomad SAS
AF:
0.370
Gnomad FIN
AF:
0.195
Gnomad MID
AF:
0.364
Gnomad NFE
AF:
0.239
Gnomad OTH
AF:
0.328
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.313
AC:
47571
AN:
151910
Hom.:
8149
Cov.:
0
AF XY:
0.312
AC XY:
23186
AN XY:
74252
show subpopulations
African (AFR)
AF:
0.448
AC:
18548
AN:
41370
American (AMR)
AF:
0.279
AC:
4257
AN:
15282
Ashkenazi Jewish (ASJ)
AF:
0.322
AC:
1117
AN:
3466
East Asian (EAS)
AF:
0.485
AC:
2501
AN:
5152
South Asian (SAS)
AF:
0.371
AC:
1787
AN:
4818
European-Finnish (FIN)
AF:
0.195
AC:
2064
AN:
10578
Middle Eastern (MID)
AF:
0.384
AC:
113
AN:
294
European-Non Finnish (NFE)
AF:
0.239
AC:
16222
AN:
67934
Other (OTH)
AF:
0.329
AC:
694
AN:
2108
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.492
Heterozygous variant carriers
0
1534
3068
4603
6137
7671
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
466
932
1398
1864
2330
<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:
0.271
Hom.:
751
Bravo
AF:
0.324
Asia WGS
AF:
0.469
AC:
1627
AN:
3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
0.34

Splicing

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

Publications

Other links and lift over

dbSNP: rs1610940; hg19: chr5-71829659; API