16-10183567-G-GACACACACACACACACACACAC

Position:

• chr16-10183567-G-GACACACACACACACACACACAC

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BS1 BS2

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

• Frequency: Genomes: 𝑓 0.0099 (43 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.

• BS1: Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.00985 (1236/125468) while in subpopulation AFR AF= 0.019 (617/32428). AF 95% confidence interval is 0.0178. There are 43 homozygotes in gnomad4. There are 558 alleles in male gnomad4 subpopulation. Median coverage is 0. This position pass quality control queck.
• BS2: High Homozygotes in GnomAd4 at 43 gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.10183567_10183568insACACACACACACACACACACAC		intergenic_region

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.00984 AC: 1234 AN: 125410 Hom.: 43 Cov.: 0

Gnomad AFR AF: 0.0190

Gnomad AMI AF: 0.00249

Gnomad AMR AF: 0.00784

Gnomad ASJ AF: 0.000940

Gnomad EAS AF: 0.00296

Gnomad SAS AF: 0.00515

Gnomad FIN AF: 0.00357

Gnomad MID AF: 0.00775

Gnomad NFE AF: 0.00737

Gnomad OTH AF: 0.00895

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

GnomAD4 genome AF: 0.00985 AC: 1236 AN: 125468 Hom.: 43 Cov.: 0 AF XY: 0.00939 AC XY: 558 AN XY: 59400

Gnomad4 AFR AF: 0.0190

Gnomad4 AMR AF: 0.00775

Gnomad4 ASJ AF: 0.000940

Gnomad4 EAS AF: 0.00296

Gnomad4 SAS AF: 0.00517

Gnomad4 FIN AF: 0.00357

Gnomad4 NFE AF: 0.00737

Gnomad4 OTH AF: 0.0100

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;