16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACAC

Variant names:

• chr16-10183567-G-GACACACACAC
• 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 0.13 (1518 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 = 0.249 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: 0.132 AC: 16477 AN: 125278 Hom.: 1517 Cov.: 0

Gnomad AFR AF: 0.0814

Gnomad AMI AF: 0.145

Gnomad AMR AF: 0.230

Gnomad ASJ AF: 0.122

Gnomad EAS AF: 0.262

Gnomad SAS AF: 0.228

Gnomad FIN AF: 0.120

Gnomad MID AF: 0.205

Gnomad NFE AF: 0.124

Gnomad OTH AF: 0.166

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

GnomAD4 genome AF: 0.131 AC: 16481 AN: 125342 Hom.: 1518 Cov.: 0 AF XY: 0.136 AC XY: 8100 AN XY: 59348

Gnomad4 AFR AF: 0.0813

Gnomad4 AMR AF: 0.231

Gnomad4 ASJ AF: 0.122

Gnomad4 EAS AF: 0.262

Gnomad4 SAS AF: 0.228

Gnomad4 FIN AF: 0.120

Gnomad4 NFE AF: 0.124

Gnomad4 OTH AF: 0.166

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;