Variant rs1811063 details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong

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 0.27 ( 0 hom., cov: 15)

Failed GnomAD Quality Control

Consequence

intergenic_region

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.542

Variant links:

Genes affected

(HGNC:):

links:

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ACMG classification

Classification made for transcript

Verdict is Likely_benign. Variant got -4 ACMG points.

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.95).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
	use as main transcript	n.15554600A>G		intergenic_region

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
ENSG00000237299	ENST00000412729.1 linkuse as main transcript	n.173-3846A>G		intron_variant		6

Frequencies

GnomAD3 genomes

AF:

0.00

AC:

21045

AN:

77830

Hom.:

Cov.:

FAILED QC

Gnomad AFR

AF:

0.313

Gnomad AMI

AF:

0.333

Gnomad AMR

AF:

0.255

Gnomad ASJ

AF:

0.265

Gnomad EAS

AF:

0.229

Gnomad SAS

AF:

0.276

Gnomad FIN

AF:

0.253

Gnomad MID

AF:

0.335

Gnomad NFE

AF:

0.251

Gnomad OTH

AF:

0.284

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

GnomAD4 genome

Data not reliable, filtered out with message: InbreedingCoeff

AF:

0.270

AC:

21060

AN:

77904

Hom.:

Cov.:

AF XY:

0.266

AC XY:

9966

AN XY:

37436

show subpopulations

Gnomad4 AFR

AF:

0.313

Gnomad4 AMR

AF:

0.255

Gnomad4 ASJ

AF:

0.265

Gnomad4 EAS

AF:

0.227

Gnomad4 SAS

AF:

0.275

Gnomad4 FIN

AF:

0.253

Gnomad4 NFE

AF:

0.250

Gnomad4 OTH

AF:

0.283

Alfa

AF:

0.257

Hom.:

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.95

CADD

Benign

6.7

DANN

Benign

0.22

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