rs1936166

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 0.907 in 152,030 control chromosomes in the GnomAD database, including 63,354 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 0.91 ( 63354 hom., cov: 33)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.63
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=-0.99).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.974 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:
0.908
AC:
137876
AN:
151912
Hom.:
63322
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.756
Gnomad AMI
AF:
0.986
Gnomad AMR
AF:
0.958
Gnomad ASJ
AF:
0.974
Gnomad EAS
AF:
0.797
Gnomad SAS
AF:
0.913
Gnomad FIN
AF:
0.978
Gnomad MID
AF:
0.940
Gnomad NFE
AF:
0.981
Gnomad OTH
AF:
0.922
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.907
AC:
137960
AN:
152030
Hom.:
63354
Cov.:
33
AF XY:
0.908
AC XY:
67479
AN XY:
74330
show subpopulations
Gnomad4 AFR
AF:
0.755
Gnomad4 AMR
AF:
0.958
Gnomad4 ASJ
AF:
0.974
Gnomad4 EAS
AF:
0.799
Gnomad4 SAS
AF:
0.913
Gnomad4 FIN
AF:
0.978
Gnomad4 NFE
AF:
0.981
Gnomad4 OTH
AF:
0.923
Alfa
AF:
0.939
Hom.:
8398
Bravo
AF:
0.899
Asia WGS
AF:
0.862
AC:
3000
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.99
CADD
Benign
1.1
DANN
Benign
0.62

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: rs1936166; hg19: chr6-78098653; API