Variant rs35975099 details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

The variant allele was found at a frequency of 0.695 in 151,354 control chromosomes in the GnomAD database, including 36,987 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.70 ( 36987 hom., cov: 0)

Exomes 𝑓: 0.50 ( 0 hom. )

Consequence

intergenic_region

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.794

Variant links:

Genes affected

(HGNC:):

links:

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -8 ACMG points.

BA1

GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.772 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
	use as main transcript	n.172505416_172505417insGTGA		intergenic_region

Ensembl

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

Frequencies

GnomAD3 genomes

AF:

0.695

AC:

105176

AN:

151230

Hom.:

36972

Cov.:

show subpopulations

Gnomad AFR

AF:

0.779

Gnomad AMI

AF:

0.786

Gnomad AMR

AF:

0.569

Gnomad ASJ

AF:

0.727

Gnomad EAS

AF:

0.632

Gnomad SAS

AF:

0.636

Gnomad FIN

AF:

0.701

Gnomad MID

AF:

0.799

Gnomad NFE

AF:

0.677

Gnomad OTH

AF:

0.708

GnomAD4 exome

AF:

0.500

AC:

AN:

Hom.:

AF XY:

0.500

AC XY:

AN XY:

show subpopulations

Gnomad4 NFE exome

AF:

0.500

GnomAD4 genome

AF:

0.695

AC:

105240

AN:

151350

Hom.:

36987

Cov.:

AF XY:

0.692

AC XY:

51188

AN XY:

73934

show subpopulations

Gnomad4 AFR

AF:

0.779

Gnomad4 AMR

AF:

0.569

Gnomad4 ASJ

AF:

0.727

Gnomad4 EAS

AF:

0.631

Gnomad4 SAS

AF:

0.636

Gnomad4 FIN

AF:

0.701

Gnomad4 NFE

AF:

0.677

Gnomad4 OTH

AF:

0.705

Alfa

AF:

0.693

Hom.:

3938

Asia WGS

AF:

0.650

AC:

2254

AN:

3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

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