Variant rs8191438 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 0.0175 in 401,104 control chromosomes in the GnomAD database, including 642 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 0.027 ( 377 hom., cov: 33)

Exomes 𝑓: 0.012 ( 265 hom. )

Consequence

Unknown

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.860

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=-0.82).

BA1

GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.175 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:

0.0265

AC:

4035

AN:

152072

Hom.:

375

Cov.:

show subpopulations

Gnomad AFR

AF:

0.0199

Gnomad AMI

AF:

0.00

Gnomad AMR

AF:

0.181

Gnomad ASJ

AF:

0.00778

Gnomad EAS

AF:

0.0259

Gnomad SAS

AF:

0.00165

Gnomad FIN

AF:

0.000378

Gnomad MID

AF:

0.00955

Gnomad NFE

AF:

0.00326

Gnomad OTH

AF:

0.0244

GnomAD4 exome

AF:

0.0119

AC:

2966

AN:

248924

Hom.:

265

Cov.:

AF XY:

0.0113

AC XY:

1435

AN XY:

127234

show subpopulations

Gnomad4 AFR exome

AF:

0.0179

Gnomad4 AMR exome

AF:

0.239

Gnomad4 ASJ exome

AF:

0.00725

Gnomad4 EAS exome

AF:

0.00874

Gnomad4 SAS exome

AF:

0.000324

Gnomad4 FIN exome

AF:

0.00109

Gnomad4 NFE exome

AF:

0.00360

Gnomad4 OTH exome

AF:

0.0227

GnomAD4 genome

AF:

0.0265

AC:

4040

AN:

152180

Hom.:

377

Cov.:

AF XY:

0.0292

AC XY:

2171

AN XY:

74390

show subpopulations

Gnomad4 AFR

AF:

0.0199

Gnomad4 AMR

AF:

0.181

Gnomad4 ASJ

AF:

0.00778

Gnomad4 EAS

AF:

0.0260

Gnomad4 SAS

AF:

0.00166

Gnomad4 FIN

AF:

0.000378

Gnomad4 NFE

AF:

0.00327

Gnomad4 OTH

AF:

0.0242

Alfa

AF:

0.00120

Hom.:

Bravo

AF:

0.0436

Asia WGS

AF:

0.0240

AC:

AN:

3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.82

CADD

Benign

7.2

DANN

Benign

0.74

Splicing

Name

Calibrated prediction

Score

Prediction

SpliceAI score (max)

0.10

Details are displayed if max score is > 0.2

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