Variant chr6-156472999-G-A 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 0.5 in 151,996 control chromosomes in the GnomAD database, including 23,190 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 0.50 ( 23190 hom., cov: 32)

Consequence

Unknown

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.395

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=-0.91).

BA1

GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.679 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes

AF:

0.500

AC:

75949

AN:

151878

Hom.:

23188

Cov.:

show subpopulations

Gnomad AFR

AF:

0.138

Gnomad AMI

AF:

0.583

Gnomad AMR

AF:

0.569

Gnomad ASJ

AF:

0.558

Gnomad EAS

AF:

0.372

Gnomad SAS

AF:

0.474

Gnomad FIN

AF:

0.666

Gnomad MID

AF:

0.634

Gnomad NFE

AF:

0.684

Gnomad OTH

AF:

0.553

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

GnomAD4 genome

AF:

0.500

AC:

75943

AN:

151996

Hom.:

23190

Cov.:

AF XY:

0.497

AC XY:

36916

AN XY:

74292

show subpopulations

Gnomad4 AFR

AF:

0.138

Gnomad4 AMR

AF:

0.569

Gnomad4 ASJ

AF:

0.558

Gnomad4 EAS

AF:

0.372

Gnomad4 SAS

AF:

0.474

Gnomad4 FIN

AF:

0.666

Gnomad4 NFE

AF:

0.684

Gnomad4 OTH

AF:

0.547

Alfa

AF:

0.643

Hom.:

27172

Bravo

AF:

0.481

Asia WGS

AF:

0.386

AC:

1346

AN:

3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.91

CADD

Benign

0.63

DANN

Benign

0.24

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