Variant rs8193037 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 0.0182 in 1,042,394 control chromosomes in the GnomAD database, including 453 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 0.017 ( 60 hom., cov: 33)

Exomes 𝑓: 0.018 ( 393 hom. )

Consequence

Unknown

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.188

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=-0.75).

BA1

GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.097 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:

0.0172

AC:

2616

AN:

152082

Hom.:

Cov.:

show subpopulations

Gnomad AFR

AF:

0.00725

Gnomad AMI

AF:

0.00110

Gnomad AMR

AF:

0.0430

Gnomad ASJ

AF:

0.00779

Gnomad EAS

AF:

0.103

Gnomad SAS

AF:

0.00786

Gnomad FIN

AF:

0.0163

Gnomad MID

AF:

0.00949

Gnomad NFE

AF:

0.0122

Gnomad OTH

AF:

0.0248

GnomAD4 exome

AF:

0.0184

AC:

16337

AN:

890194

Hom.:

393

AF XY:

0.0176

AC XY:

8120

AN XY:

460724

show subpopulations

Gnomad4 AFR exome

AF:

0.00780

Gnomad4 AMR exome

AF:

0.0670

Gnomad4 ASJ exome

AF:

0.00863

Gnomad4 EAS exome

AF:

0.113

Gnomad4 SAS exome

AF:

0.00758

Gnomad4 FIN exome

AF:

0.0131

Gnomad4 NFE exome

AF:

0.0121

Gnomad4 OTH exome

AF:

0.0193

GnomAD4 genome

AF:

0.0173

AC:

2627

AN:

152200

Hom.:

Cov.:

AF XY:

0.0188

AC XY:

1399

AN XY:

74428

show subpopulations

Gnomad4 AFR

AF:

0.00727

Gnomad4 AMR

AF:

0.0434

Gnomad4 ASJ

AF:

0.00779

Gnomad4 EAS

AF:

0.104

Gnomad4 SAS

AF:

0.00766

Gnomad4 FIN

AF:

0.0163

Gnomad4 NFE

AF:

0.0122

Gnomad4 OTH

AF:

0.0246

Alfa

AF:

0.0141

Hom.:

Bravo

AF:

0.0205

Asia WGS

AF:

0.0600

AC:

207

AN:

3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.75

CADD

Benign

4.4

DANN

Benign

0.91

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