16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACAC

Position:

• chr16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACAC

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

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

• Frequency:
  • Genomes: 𝑓 0.078 (606 hom., cov: 0)
  • Failed GnomAD Quality Control
• Consequence: intergenic_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.32

Genes affected

(HGNC:):

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.10183567_10183568insACACACACACAC		intergenic_region

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.00 AC: 9794 AN: 125334 Hom.: 605 Cov.: 0 FAILED QC

Gnomad AFR AF: 0.0357

Gnomad AMI AF: 0.00498

Gnomad AMR AF: 0.121

Gnomad ASJ AF: 0.102

Gnomad EAS AF: 0.111

Gnomad SAS AF: 0.0957

Gnomad FIN AF: 0.0805

Gnomad MID AF: 0.0586

Gnomad NFE AF: 0.0884

Gnomad OTH AF: 0.0747

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

GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0781 AC: 9797 AN: 125396 Hom.: 606 Cov.: 0 AF XY: 0.0796 AC XY: 4724 AN XY: 59354

Gnomad4 AFR AF: 0.0357

Gnomad4 AMR AF: 0.121

Gnomad4 ASJ AF: 0.102

Gnomad4 EAS AF: 0.110

Gnomad4 SAS AF: 0.0959

Gnomad4 FIN AF: 0.0805

Gnomad4 NFE AF: 0.0884

Gnomad4 OTH AF: 0.0743

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;