16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACACAC

Position:

• chr16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACACAC

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 0.10 (975 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 (SAS) allele frequency at 95% confidence interval = 0.15 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.10183567_10183568insACACACACACACAC		intergenic_region

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.103 AC: 12886 AN: 125226 Hom.: 976 Cov.: 0

Gnomad AFR AF: 0.0522

Gnomad AMI AF: 0.184

Gnomad AMR AF: 0.0915

Gnomad ASJ AF: 0.132

Gnomad EAS AF: 0.110

Gnomad SAS AF: 0.162

Gnomad FIN AF: 0.112

Gnomad MID AF: 0.145

Gnomad NFE AF: 0.125

Gnomad OTH AF: 0.103

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

GnomAD4 genome AF: 0.103 AC: 12881 AN: 125290 Hom.: 975 Cov.: 0 AF XY: 0.104 AC XY: 6146 AN XY: 59330

Gnomad4 AFR AF: 0.0522

Gnomad4 AMR AF: 0.0915

Gnomad4 ASJ AF: 0.132

Gnomad4 EAS AF: 0.110

Gnomad4 SAS AF: 0.161

Gnomad4 FIN AF: 0.112

Gnomad4 NFE AF: 0.125

Gnomad4 OTH AF: 0.103

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;