Variant rs2328223 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 0.2 in 152,134 control chromosomes in the GnomAD database, including 3,190 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 0.20 ( 3190 hom., cov: 32)

Consequence

Unknown

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.261

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=-0.74).

BA1

GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.301 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:

0.200

AC:

30437

AN:

152016

Hom.:

3189

Cov.:

show subpopulations

Gnomad AFR

AF:

0.176

Gnomad AMI

AF:

0.273

Gnomad AMR

AF:

0.238

Gnomad ASJ

AF:

0.212

Gnomad EAS

AF:

0.215

Gnomad SAS

AF:

0.315

Gnomad FIN

AF:

0.218

Gnomad MID

AF:

0.357

Gnomad NFE

AF:

0.192

Gnomad OTH

AF:

0.211

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

GnomAD4 genome

AF:

0.200

AC:

30441

AN:

152134

Hom.:

3190

Cov.:

AF XY:

0.204

AC XY:

15202

AN XY:

74376

show subpopulations

Gnomad4 AFR

AF:

0.176

Gnomad4 AMR

AF:

0.238

Gnomad4 ASJ

AF:

0.212

Gnomad4 EAS

AF:

0.213

Gnomad4 SAS

AF:

0.314

Gnomad4 FIN

AF:

0.218

Gnomad4 NFE

AF:

0.192

Gnomad4 OTH

AF:

0.211

Alfa

AF:

0.191

Hom.:

4501

Bravo

AF:

0.200

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.74

CADD

Benign

6.4

DANN

Benign

0.89

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