Variant rs7301155 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 0.679 in 151,932 control chromosomes in the GnomAD database, including 35,216 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 0.68 ( 35216 hom., cov: 30)

Consequence

Unknown

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.205

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=-0.88).

BA1

GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.742 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:

0.679

AC:

103051

AN:

151814

Hom.:

35184

Cov.:

show subpopulations

Gnomad AFR

AF:

0.723

Gnomad AMI

AF:

0.608

Gnomad AMR

AF:

0.619

Gnomad ASJ

AF:

0.656

Gnomad EAS

AF:

0.576

Gnomad SAS

AF:

0.764

Gnomad FIN

AF:

0.648

Gnomad MID

AF:

0.630

Gnomad NFE

AF:

0.675

Gnomad OTH

AF:

0.660

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

GnomAD4 genome

AF:

0.679

AC:

103129

AN:

151932

Hom.:

35216

Cov.:

AF XY:

0.678

AC XY:

50330

AN XY:

74226

show subpopulations

Gnomad4 AFR

AF:

0.723

Gnomad4 AMR

AF:

0.619

Gnomad4 ASJ

AF:

0.656

Gnomad4 EAS

AF:

0.577

Gnomad4 SAS

AF:

0.762

Gnomad4 FIN

AF:

0.648

Gnomad4 NFE

AF:

0.675

Gnomad4 OTH

AF:

0.664

Alfa

AF:

0.660

Hom.:

14526

Bravo

AF:

0.667

Asia WGS

AF:

0.643

AC:

2238

AN:

3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.88

CADD

Benign

5.1

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