Variant rs9327207 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 0.849 in 151,926 control chromosomes in the GnomAD database, including 54,913 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 0.85 ( 54913 hom., cov: 31)

Consequence

Unknown

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.0610

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=-0.99).

BA1

GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.871 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:

0.850

AC:

128970

AN:

151808

Hom.:

54883

Cov.:

show subpopulations

Gnomad AFR

AF:

0.879

Gnomad AMI

AF:

0.781

Gnomad AMR

AF:

0.860

Gnomad ASJ

AF:

0.888

Gnomad EAS

AF:

0.806

Gnomad SAS

AF:

0.859

Gnomad FIN

AF:

0.797

Gnomad MID

AF:

0.883

Gnomad NFE

AF:

0.839

Gnomad OTH

AF:

0.849

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

GnomAD4 genome

AF:

0.849

AC:

129053

AN:

151926

Hom.:

54913

Cov.:

AF XY:

0.846

AC XY:

62834

AN XY:

74234

show subpopulations

Gnomad4 AFR

AF:

0.879

Gnomad4 AMR

AF:

0.860

Gnomad4 ASJ

AF:

0.888

Gnomad4 EAS

AF:

0.806

Gnomad4 SAS

AF:

0.859

Gnomad4 FIN

AF:

0.797

Gnomad4 NFE

AF:

0.839

Gnomad4 OTH

AF:

0.846

Alfa

AF:

0.846

Hom.:

97884

Bravo

AF:

0.859

Asia WGS

AF:

0.790

AC:

2747

AN:

3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.99

CADD

Benign

2.3

DANN

Benign

0.41

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