GeneBe

rs17078770

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 0.54 ( 22729 hom., cov: 0)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.339

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 (SAS) allele frequency at 95% confidence interval = 0.606 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:
0.544
AC:
82524
AN:
151684
Hom.:
22714
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.593
Gnomad AMI
AF:
0.569
Gnomad AMR
AF:
0.510
Gnomad ASJ
AF:
0.469
Gnomad EAS
AF:
0.429
Gnomad SAS
AF:
0.625
Gnomad FIN
AF:
0.563
Gnomad MID
AF:
0.506
Gnomad NFE
AF:
0.526
Gnomad OTH
AF:
0.527
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.544
AC:
82589
AN:
151804
Hom.:
22729
Cov.:
0
AF XY:
0.547
AC XY:
40605
AN XY:
74190
show subpopulations
African (AFR)
AF:
0.593
AC:
24522
AN:
41376
American (AMR)
AF:
0.510
AC:
7777
AN:
15242
Ashkenazi Jewish (ASJ)
AF:
0.469
AC:
1623
AN:
3464
East Asian (EAS)
AF:
0.429
AC:
2216
AN:
5164
South Asian (SAS)
AF:
0.625
AC:
3011
AN:
4820
European-Finnish (FIN)
AF:
0.563
AC:
5922
AN:
10516
Middle Eastern (MID)
AF:
0.517
AC:
152
AN:
294
European-Non Finnish (NFE)
AF:
0.526
AC:
35743
AN:
67916
Other (OTH)
AF:
0.526
AC:
1106
AN:
2104
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.505
Heterozygous variant carriers
0
1954
3908
5862
7816
9770
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
724
1448
2172
2896
3620
<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:
0.526
Hom.:
2573
Bravo
AF:
0.537
Asia WGS
AF:
0.519
AC:
1805
AN:
3478

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: rs17078770; hg19: chr6-132893723; API