chr16-10183567-G-GACAC

Position:

• chr16-10183567-G-GACAC

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 0.063 (627 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_10183568insACAC		intergenic_region

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.00 AC: 7939 AN: 125404 Hom.: 627 Cov.: 0 FAILED QC

Gnomad AFR AF: 0.177

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0383

Gnomad ASJ AF: 0.0251

Gnomad EAS AF: 0.0715

Gnomad SAS AF: 0.0524

Gnomad FIN AF: 0.0201

Gnomad MID AF: 0.0116

Gnomad NFE AF: 0.0159

Gnomad OTH AF: 0.0531

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: 0.0634 AC: 7949 AN: 125468 Hom.: 627 Cov.: 0 AF XY: 0.0639 AC XY: 3798 AN XY: 59414

Gnomad4 AFR AF: 0.177

Gnomad4 AMR AF: 0.0383

Gnomad4 ASJ AF: 0.0251

Gnomad4 EAS AF: 0.0710

Gnomad4 SAS AF: 0.0520

Gnomad4 FIN AF: 0.0201

Gnomad4 NFE AF: 0.0159

Gnomad4 OTH AF: 0.0524

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;