GeneBe

rs5786130

Positions:

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

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

Frequency

Genomes: 𝑓 0.00068 ( 1 hom., cov: 0)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.639
Variant links:

Genome browser will be placed here

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt

Frequencies

GnomAD3 genomes
AF:
0.000682
AC:
92
AN:
134926
Hom.:
1
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.00147
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.000153
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00196
Gnomad SAS
AF:
0.00171
Gnomad FIN
AF:
0.000423
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.000266
Gnomad OTH
AF:
0.000571
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.000682
AC:
92
AN:
134964
Hom.:
1
Cov.:
0
AF XY:
0.000665
AC XY:
43
AN XY:
64628
show subpopulations
Gnomad4 AFR
AF:
0.00147
Gnomad4 AMR
AF:
0.000153
Gnomad4 ASJ
AF:
0.00
Gnomad4 EAS
AF:
0.00197
Gnomad4 SAS
AF:
0.00172
Gnomad4 FIN
AF:
0.000423
Gnomad4 NFE
AF:
0.000266
Gnomad4 OTH
AF:
0.000565

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

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

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs3998225; hg19: chr10-75709167; API