Variant 16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACACACACAC details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BS1BS2

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.030 ( 155 hom., cov: 0)

Consequence

intergenic_region

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 1.32

Variant links:

Genes affected

(HGNC:):

links:

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -8 ACMG points.

BS1

Variant frequency is greater than expected in population nfe. gnomad4 allele frequency = 0.0297 (3721/125404) while in subpopulation NFE AF= 0.0367 (2199/59964). AF 95% confidence interval is 0.0354. There are 155 homozygotes in gnomad4. There are 1707 alleles in male gnomad4 subpopulation. Median coverage is 0. This position pass quality control queck.

BS2

High Homozygotes in GnomAd4 at 155 gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
	use as main transcript	n.10183567_10183568insACACACACACACACACAC		intergenic_region

Ensembl

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

Frequencies

GnomAD3 genomes

AF:

0.0297

AC:

3718

AN:

125340

Hom.:

155

Cov.:

show subpopulations

Gnomad AFR

AF:

0.0218

Gnomad AMI

AF:

0.00746

Gnomad AMR

AF:

0.0234

Gnomad ASJ

AF:

0.0323

Gnomad EAS

AF:

0.0227

Gnomad SAS

AF:

0.0254

Gnomad FIN

AF:

0.0255

Gnomad MID

AF:

0.00775

Gnomad NFE

AF:

0.0367

Gnomad OTH

AF:

0.0299

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

GnomAD4 genome

AF:

0.0297

AC:

3721

AN:

125404

Hom.:

155

Cov.:

AF XY:

0.0287

AC XY:

1707

AN XY:

59380

show subpopulations

Gnomad4 AFR

AF:

0.0218

Gnomad4 AMR

AF:

0.0235

Gnomad4 ASJ

AF:

0.0323

Gnomad4 EAS

AF:

0.0227

Gnomad4 SAS

AF:

0.0255

Gnomad4 FIN

AF:

0.0255

Gnomad4 NFE

AF:

0.0367

Gnomad4 OTH

AF:

0.0295

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