Variant rs10966811 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 0.329 in 151,996 control chromosomes in the GnomAD database, including 9,865 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 0.33 ( 9865 hom., cov: 33)

Consequence

Unknown

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.927

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=-1.03).

BA1

GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.544 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:

0.329

AC:

49972

AN:

151878

Hom.:

9879

Cov.:

show subpopulations

Gnomad AFR

AF:

0.107

Gnomad AMI

AF:

0.468

Gnomad AMR

AF:

0.377

Gnomad ASJ

AF:

0.339

Gnomad EAS

AF:

0.563

Gnomad SAS

AF:

0.264

Gnomad FIN

AF:

0.416

Gnomad MID

AF:

0.297

Gnomad NFE

AF:

0.424

Gnomad OTH

AF:

0.347

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

GnomAD4 genome

AF:

0.329

AC:

49948

AN:

151996

Hom.:

9865

Cov.:

AF XY:

0.328

AC XY:

24363

AN XY:

74272

show subpopulations

Gnomad4 AFR

AF:

0.107

Gnomad4 AMR

AF:

0.377

Gnomad4 ASJ

AF:

0.339

Gnomad4 EAS

AF:

0.561

Gnomad4 SAS

AF:

0.265

Gnomad4 FIN

AF:

0.416

Gnomad4 NFE

AF:

0.424

Gnomad4 OTH

AF:

0.343

Alfa

AF:

0.404

Hom.:

16049

Bravo

AF:

0.322

Asia WGS

AF:

0.354

AC:

1229

AN:

3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-1.0

CADD

Benign

0.45

DANN

Benign

0.61

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