rs1933182

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The variant allele was found at a frequency of 0.635 in 151,922 control chromosomes in the GnomAD database, including 32,475 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.64 ( 32475 hom., cov: 30)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.304
Variant links:

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ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.91).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.937 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:
0.636
AC:
96489
AN:
151804
Hom.:
32456
Cov.:
30
show subpopulations
Gnomad AFR
AF:
0.407
Gnomad AMI
AF:
0.689
Gnomad AMR
AF:
0.771
Gnomad ASJ
AF:
0.805
Gnomad EAS
AF:
0.959
Gnomad SAS
AF:
0.729
Gnomad FIN
AF:
0.667
Gnomad MID
AF:
0.706
Gnomad NFE
AF:
0.697
Gnomad OTH
AF:
0.687
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.635
AC:
96527
AN:
151922
Hom.:
32475
Cov.:
30
AF XY:
0.639
AC XY:
47418
AN XY:
74242
show subpopulations
Gnomad4 AFR
AF:
0.406
Gnomad4 AMR
AF:
0.772
Gnomad4 ASJ
AF:
0.805
Gnomad4 EAS
AF:
0.959
Gnomad4 SAS
AF:
0.730
Gnomad4 FIN
AF:
0.667
Gnomad4 NFE
AF:
0.697
Gnomad4 OTH
AF:
0.691
Alfa
AF:
0.712
Hom.:
43856
Bravo
AF:
0.639
Asia WGS
AF:
0.795
AC:
2762
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.91
CADD
Benign
1.3
DANN
Benign
0.43

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: rs1933182; hg19: chr1-109999838; API