Variant rs711812 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 0.39 in 151,418 control chromosomes in the GnomAD database, including 12,836 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 0.39 ( 12836 hom., cov: 29)

Consequence

Unknown

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.629

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=-0.95).

BA1

GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.574 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:

0.390

AC:

58949

AN:

151302

Hom.:

12804

Cov.:

show subpopulations

Gnomad AFR

AF:

0.580

Gnomad AMI

AF:

0.0548

Gnomad AMR

AF:

0.386

Gnomad ASJ

AF:

0.327

Gnomad EAS

AF:

0.0658

Gnomad SAS

AF:

0.235

Gnomad FIN

AF:

0.295

Gnomad MID

AF:

0.329

Gnomad NFE

AF:

0.334

Gnomad OTH

AF:

0.368

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

GnomAD4 genome

AF:

0.390

AC:

59032

AN:

151418

Hom.:

12836

Cov.:

AF XY:

0.382

AC XY:

28256

AN XY:

73934

show subpopulations

Gnomad4 AFR

AF:

0.580

Gnomad4 AMR

AF:

0.386

Gnomad4 ASJ

AF:

0.327

Gnomad4 EAS

AF:

0.0654

Gnomad4 SAS

AF:

0.237

Gnomad4 FIN

AF:

0.295

Gnomad4 NFE

AF:

0.334

Gnomad4 OTH

AF:

0.368

Alfa

AF:

0.343

Hom.:

8932

Bravo

AF:

0.408

Asia WGS

AF:

0.214

AC:

749

AN:

3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.95

CADD

Benign

0.016

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.

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