Variant rs1114559 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 0.811 in 152,088 control chromosomes in the GnomAD database, including 50,466 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 0.81 ( 50466 hom., cov: 31)

Consequence

Unknown

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.68

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=-1.0).

BA1

GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.891 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes

AF:

0.811

AC:

123273

AN:

151970

Hom.:

50422

Cov.:

show subpopulations

Gnomad AFR

AF:

0.899

Gnomad AMI

AF:

0.657

Gnomad AMR

AF:

0.751

Gnomad ASJ

AF:

0.818

Gnomad EAS

AF:

0.696

Gnomad SAS

AF:

0.728

Gnomad FIN

AF:

0.772

Gnomad MID

AF:

0.879

Gnomad NFE

AF:

0.794

Gnomad OTH

AF:

0.805

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

GnomAD4 genome

AF:

0.811

AC:

123368

AN:

152088

Hom.:

50466

Cov.:

AF XY:

0.808

AC XY:

60030

AN XY:

74332

show subpopulations

Gnomad4 AFR

AF:

0.898

Gnomad4 AMR

AF:

0.751

Gnomad4 ASJ

AF:

0.818

Gnomad4 EAS

AF:

0.695

Gnomad4 SAS

AF:

0.727

Gnomad4 FIN

AF:

0.772

Gnomad4 NFE

AF:

0.794

Gnomad4 OTH

AF:

0.808

Alfa

AF:

0.793

Hom.:

14788

Bravo

AF:

0.812

Asia WGS

AF:

0.720

AC:

2504

AN:

3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-1.0

CADD

Benign

0.012

DANN

Benign

0.65

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