Variant rs7795288 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 0.343 in 151,996 control chromosomes in the GnomAD database, including 12,188 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 0.34 ( 12188 hom., cov: 31)

Consequence

Unknown

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.225

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=-0.96).

BA1

GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.746 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:

0.343

AC:

52081

AN:

151876

Hom.:

12165

Cov.:

show subpopulations

Gnomad AFR

AF:

0.599

Gnomad AMI

AF:

0.275

Gnomad AMR

AF:

0.399

Gnomad ASJ

AF:

0.193

Gnomad EAS

AF:

0.766

Gnomad SAS

AF:

0.402

Gnomad FIN

AF:

0.138

Gnomad MID

AF:

0.264

Gnomad NFE

AF:

0.180

Gnomad OTH

AF:

0.321

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

GnomAD4 genome

AF:

0.343

AC:

52156

AN:

151996

Hom.:

12188

Cov.:

AF XY:

0.347

AC XY:

25797

AN XY:

74322

show subpopulations

Gnomad4 AFR

AF:

0.599

Gnomad4 AMR

AF:

0.400

Gnomad4 ASJ

AF:

0.193

Gnomad4 EAS

AF:

0.766

Gnomad4 SAS

AF:

0.402

Gnomad4 FIN

AF:

0.138

Gnomad4 NFE

AF:

0.180

Gnomad4 OTH

AF:

0.322

Alfa

AF:

0.139

Hom.:

2643

Bravo

AF:

0.374

Asia WGS

AF:

0.549

AC:

1910

AN:

3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.96

CADD

Benign

1.4

DANN

Benign

0.62

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