16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACAC

Variant names:

• chr16-10183567-G-GACACAC
• 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 0.055 (302 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 = 0.0999 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: 0.0548 AC: 6876 AN: 125386 Hom.: 302 Cov.: 0

Gnomad AFR AF: 0.0594

Gnomad AMI AF: 0.0485

Gnomad AMR AF: 0.0532

Gnomad ASJ AF: 0.0395

Gnomad EAS AF: 0.108

Gnomad SAS AF: 0.0660

Gnomad FIN AF: 0.0351

Gnomad MID AF: 0.0388

Gnomad NFE AF: 0.0519

Gnomad OTH AF: 0.0507

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

GnomAD4 genome AF: 0.0549 AC: 6881 AN: 125448 Hom.: 302 Cov.: 0 AF XY: 0.0549 AC XY: 3262 AN XY: 59398

Gnomad4 AFR AF: 0.0594

Gnomad4 AMR AF: 0.0532

Gnomad4 ASJ AF: 0.0395

Gnomad4 EAS AF: 0.108

Gnomad4 SAS AF: 0.0670

Gnomad4 FIN AF: 0.0351

Gnomad4 NFE AF: 0.0519

Gnomad4 OTH AF: 0.0512

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;