Variant chr4-71830748-C-G 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 0.59 in 152,036 control chromosomes in the GnomAD database, including 28,571 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 0.59 ( 28571 hom., cov: 32)

Consequence

Unknown

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.239

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=-0.97).

BA1

GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.828 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:

0.590

AC:

89610

AN:

151920

Hom.:

28518

Cov.:

show subpopulations

Gnomad AFR

AF:

0.835

Gnomad AMI

AF:

0.600

Gnomad AMR

AF:

0.500

Gnomad ASJ

AF:

0.438

Gnomad EAS

AF:

0.841

Gnomad SAS

AF:

0.463

Gnomad FIN

AF:

0.458

Gnomad MID

AF:

0.465

Gnomad NFE

AF:

0.480

Gnomad OTH

AF:

0.563

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

GnomAD4 genome

AF:

0.590

AC:

89719

AN:

152036

Hom.:

28571

Cov.:

AF XY:

0.586

AC XY:

43578

AN XY:

74310

show subpopulations

Gnomad4 AFR

AF:

0.836

Gnomad4 AMR

AF:

0.500

Gnomad4 ASJ

AF:

0.438

Gnomad4 EAS

AF:

0.841

Gnomad4 SAS

AF:

0.461

Gnomad4 FIN

AF:

0.458

Gnomad4 NFE

AF:

0.480

Gnomad4 OTH

AF:

0.565

Alfa

AF:

0.535

Hom.:

2670

Bravo

AF:

0.610

Asia WGS

AF:

0.638

AC:

2222

AN:

3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.97

CADD

Benign

1.5

DANN

Benign

0.56

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