16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACACACAC

Position:

• chr16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACACACAC

Variant summary

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

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

• Frequency: Genomes: 𝑓 0.085 (748 hom., cov: 0)
• Consequence: intergenic_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.32

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.104 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.10183567_10183568insACACACACACACACAC		intergenic_region

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.0845 AC: 10581 AN: 125212 Hom.: 749 Cov.: 0

Gnomad AFR AF: 0.0490

Gnomad AMI AF: 0.0813

Gnomad AMR AF: 0.0709

Gnomad ASJ AF: 0.0832

Gnomad EAS AF: 0.0481

Gnomad SAS AF: 0.0824

Gnomad FIN AF: 0.121

Gnomad MID AF: 0.0698

Gnomad NFE AF: 0.106

Gnomad OTH AF: 0.0612

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

GnomAD4 genome AF: 0.0845 AC: 10588 AN: 125278 Hom.: 748 Cov.: 0 AF XY: 0.0809 AC XY: 4797 AN XY: 59318

Gnomad4 AFR AF: 0.0491

Gnomad4 AMR AF: 0.0706

Gnomad4 ASJ AF: 0.0832

Gnomad4 EAS AF: 0.0483

Gnomad4 SAS AF: 0.0828

Gnomad4 FIN AF: 0.121

Gnomad4 NFE AF: 0.106

Gnomad4 OTH AF: 0.0628

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs3219790; hg19: chr16-10277424;