GeneBe

rs3057847

Variant names:

Variant summary

Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BS2

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.0019 ( 2 hom., cov: 0)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.0640

Publications

1 publications found
Variant links:

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ACMG classification

Our verdict: Likely_benign. The variant received -4 ACMG points.

BS2
High Homozygotes in GnomAd4 at 2 gene

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:
0.00194
AC:
59
AN:
30450
Hom.:
2
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.00452
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.000917
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.0000981
Gnomad OTH
AF:
0.00
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.00194
AC:
59
AN:
30462
Hom.:
2
Cov.:
0
AF XY:
0.00188
AC XY:
28
AN XY:
14914
show subpopulations
African (AFR)
AF:
0.00451
AC:
57
AN:
12626
American (AMR)
AF:
0.00
AC:
0
AN:
2072
Ashkenazi Jewish (ASJ)
AF:
0.00
AC:
0
AN:
462
East Asian (EAS)
AF:
0.000919
AC:
1
AN:
1088
South Asian (SAS)
AF:
0.00
AC:
0
AN:
1014
European-Finnish (FIN)
AF:
0.00
AC:
0
AN:
2522
Middle Eastern (MID)
AF:
0.00
AC:
0
AN:
34
European-Non Finnish (NFE)
AF:
0.0000981
AC:
1
AN:
10194
Other (OTH)
AF:
0.00
AC:
0
AN:
362
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.540
Heterozygous variant carriers
0
3
6
10
13
16
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Variant carriers
0
2
4
6
8
10
<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:
0.00
Hom.:
0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
0.064

Splicing

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

Publications

Other links and lift over

dbSNP: rs3057847; hg19: chr1-9439844; API