Variant rs6947830 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 0.553 in 151,878 control chromosomes in the GnomAD database, including 23,599 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 0.55 ( 23599 hom., cov: 31)

Consequence

Unknown

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.101

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=-0.89).

BA1

GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.661 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:

0.553

AC:

83993

AN:

151760

Hom.:

23586

Cov.:

show subpopulations

Gnomad AFR

AF:

0.603

Gnomad AMI

AF:

0.462

Gnomad AMR

AF:

0.486

Gnomad ASJ

AF:

0.554

Gnomad EAS

AF:

0.680

Gnomad SAS

AF:

0.622

Gnomad FIN

AF:

0.439

Gnomad MID

AF:

0.506

Gnomad NFE

AF:

0.543

Gnomad OTH

AF:

0.541

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

GnomAD4 genome

AF:

0.553

AC:

84057

AN:

151878

Hom.:

23599

Cov.:

AF XY:

0.549

AC XY:

40722

AN XY:

74200

show subpopulations

Gnomad4 AFR

AF:

0.603

Gnomad4 AMR

AF:

0.486

Gnomad4 ASJ

AF:

0.554

Gnomad4 EAS

AF:

0.680

Gnomad4 SAS

AF:

0.622

Gnomad4 FIN

AF:

0.439

Gnomad4 NFE

AF:

0.543

Gnomad4 OTH

AF:

0.547

Alfa

AF:

0.538

Hom.:

20490

Bravo

AF:

0.555

Asia WGS

AF:

0.641

AC:

2227

AN:

3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.89

CADD

Benign

1.4

DANN

Benign

0.31

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