GeneBe

rs5785963

Variant names:

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

It is difficult to determine the true allele frequency of this variant because it is of type DEL_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.00030 ( 0 hom., cov: 0)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 1.46

Publications

1 publications found
Variant links:

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ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

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:
0.000301
AC:
22
AN:
73072
Hom.:
0
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.00
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.000518
Gnomad OTH
AF:
0.00
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.000301
AC:
22
AN:
73072
Hom.:
0
Cov.:
0
AF XY:
0.000311
AC XY:
10
AN XY:
32166
show subpopulations
African (AFR)
AF:
0.00
AC:
0
AN:
16520
American (AMR)
AF:
0.00
AC:
0
AN:
5494
Ashkenazi Jewish (ASJ)
AF:
0.00
AC:
0
AN:
2340
East Asian (EAS)
AF:
0.00
AC:
0
AN:
2066
South Asian (SAS)
AF:
0.00
AC:
0
AN:
1662
European-Finnish (FIN)
AF:
0.00
AC:
0
AN:
928
Middle Eastern (MID)
AF:
0.00
AC:
0
AN:
80
European-Non Finnish (NFE)
AF:
0.000518
AC:
22
AN:
42484
Other (OTH)
AF:
0.00
AC:
0
AN:
916
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.661
Heterozygous variant carriers
0
1
3
4
6
7
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.:
236

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: rs5785963; hg19: chr10-71930676; API