Variant rs11591754 details in Genebe, Genetics Data Aggregator

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 0.168 in 152,076 control chromosomes in the GnomAD database, including 2,329 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 0.17 ( 2329 hom., cov: 32)

Consequence

Unknown

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.129

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=-0.87).

BA1

GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.267 is higher than 0.05.

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:

0.168

AC:

25571

AN:

151958

Hom.:

2324

Cov.:

show subpopulations

Gnomad AFR

AF:

0.100

Gnomad AMI

AF:

0.186

Gnomad AMR

AF:

0.202

Gnomad ASJ

AF:

0.204

Gnomad EAS

AF:

0.277

Gnomad SAS

AF:

0.215

Gnomad FIN

AF:

0.209

Gnomad MID

AF:

0.206

Gnomad NFE

AF:

0.182

Gnomad OTH

AF:

0.166

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome

AF:

0.168

AC:

25585

AN:

152076

Hom.:

2329

Cov.:

AF XY:

0.171

AC XY:

12677

AN XY:

74316

show subpopulations

Gnomad4 AFR

AF:

0.100

Gnomad4 AMR

AF:

0.203

Gnomad4 ASJ

AF:

0.204

Gnomad4 EAS

AF:

0.279

Gnomad4 SAS

AF:

0.214

Gnomad4 FIN

AF:

0.209

Gnomad4 NFE

AF:

0.182

Gnomad4 OTH

AF:

0.166

Alfa

AF:

0.180

Hom.:

2859

Bravo

AF:

0.164

Asia WGS

AF:

0.262

AC:

913

AN:

3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.87

CADD

Benign

7.6

DANN

Benign

0.60

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.

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

ClinVar

Computational scores

Splicing

Publications

LitVar

Other links and lift over