16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACAC

Variant names:

• chr16-10183567-G-GACACACAC
• rs3219790

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 0.081 (600 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.32

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.137 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.0804 AC: 10083 AN: 125374 Hom.: 598 Cov.: 0

Gnomad AFR AF: 0.0955

Gnomad AMI AF: 0.287

Gnomad AMR AF: 0.0848

Gnomad ASJ AF: 0.0884

Gnomad EAS AF: 0.147

Gnomad SAS AF: 0.0857

Gnomad FIN AF: 0.0343

Gnomad MID AF: 0.101

Gnomad NFE AF: 0.0685

Gnomad OTH AF: 0.0860

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

GnomAD4 genome AF: 0.0805 AC: 10098 AN: 125438 Hom.: 600 Cov.: 0 AF XY: 0.0807 AC XY: 4791 AN XY: 59390

Gnomad4 AFR AF: 0.0958

Gnomad4 AMR AF: 0.0847

Gnomad4 ASJ AF: 0.0884

Gnomad4 EAS AF: 0.147

Gnomad4 SAS AF: 0.0852

Gnomad4 FIN AF: 0.0343

Gnomad4 NFE AF: 0.0685

Gnomad4 OTH AF: 0.0873

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;