Variant rs7526795 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 0.37 in 151,886 control chromosomes in the GnomAD database, including 10,699 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 0.37 ( 10699 hom., cov: 31)

Consequence

Unknown

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.0240

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=-0.9).

BA1

GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.434 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:

0.370

AC:

56196

AN:

151768

Hom.:

10691

Cov.:

show subpopulations

Gnomad AFR

AF:

0.440

Gnomad AMI

AF:

0.347

Gnomad AMR

AF:

0.278

Gnomad ASJ

AF:

0.427

Gnomad EAS

AF:

0.235

Gnomad SAS

AF:

0.317

Gnomad FIN

AF:

0.349

Gnomad MID

AF:

0.402

Gnomad NFE

AF:

0.364

Gnomad OTH

AF:

0.353

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

GnomAD4 genome

AF:

0.370

AC:

56232

AN:

151886

Hom.:

10699

Cov.:

AF XY:

0.366

AC XY:

27192

AN XY:

74212

show subpopulations

Gnomad4 AFR

AF:

0.440

Gnomad4 AMR

AF:

0.277

Gnomad4 ASJ

AF:

0.427

Gnomad4 EAS

AF:

0.236

Gnomad4 SAS

AF:

0.317

Gnomad4 FIN

AF:

0.349

Gnomad4 NFE

AF:

0.364

Gnomad4 OTH

AF:

0.351

Alfa

AF:

0.360

Hom.:

5121

Bravo

AF:

0.368

Asia WGS

AF:

0.292

AC:

1015

AN:

3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.90

CADD

Benign

0.87

DANN

Benign

0.65

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