Variant rs10795733 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 0.417 in 151,792 control chromosomes in the GnomAD database, including 14,131 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 0.42 ( 14131 hom., cov: 30)

Consequence

Unknown

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -2.50

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=-0.87).

BA1

GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.501 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:

0.417

AC:

63295

AN:

151674

Hom.:

14124

Cov.:

show subpopulations

Gnomad AFR

AF:

0.280

Gnomad AMI

AF:

0.719

Gnomad AMR

AF:

0.388

Gnomad ASJ

AF:

0.478

Gnomad EAS

AF:

0.390

Gnomad SAS

AF:

0.421

Gnomad FIN

AF:

0.393

Gnomad MID

AF:

0.386

Gnomad NFE

AF:

0.506

Gnomad OTH

AF:

0.420

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

GnomAD4 genome

AF:

0.417

AC:

63340

AN:

151792

Hom.:

14131

Cov.:

AF XY:

0.410

AC XY:

30428

AN XY:

74162

show subpopulations

Gnomad4 AFR

AF:

0.281

Gnomad4 AMR

AF:

0.387

Gnomad4 ASJ

AF:

0.478

Gnomad4 EAS

AF:

0.389

Gnomad4 SAS

AF:

0.419

Gnomad4 FIN

AF:

0.393

Gnomad4 NFE

AF:

0.506

Gnomad4 OTH

AF:

0.423

Alfa

AF:

0.464

Hom.:

12021

Bravo

AF:

0.409

Asia WGS

AF:

0.447

AC:

1553

AN:

3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.87

CADD

Benign

0.41

DANN

Benign

0.49

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