16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACACAC

Variant names:

• chr16-10183567-G-GACACACACACACAC
• 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 0.10 (975 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 (SAS) allele frequency at 95% confidence interval = 0.15 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: 0.103 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;