chr16-10183567-G-GAC

Variant names:

• chr16-10183567-G-GAC
• 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 0.086 (533 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 (AFR) allele frequency at 95% confidence interval = 0.117 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: 0.0857 AC: 10747 AN: 125386 Hom.: 532 Cov.: 0

Gnomad AFR AF: 0.120

Gnomad AMI AF: 0.0585

Gnomad AMR AF: 0.0653

Gnomad ASJ AF: 0.0417

Gnomad EAS AF: 0.0488

Gnomad SAS AF: 0.0379

Gnomad FIN AF: 0.0898

Gnomad MID AF: 0.0388

Gnomad NFE AF: 0.0788

Gnomad OTH AF: 0.0896

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

GnomAD4 genome AF: 0.0857 AC: 10757 AN: 125450 Hom.: 533 Cov.: 0 AF XY: 0.0838 AC XY: 4978 AN XY: 59398

Gnomad4 AFR AF: 0.121

Gnomad4 AMR AF: 0.0652

Gnomad4 ASJ AF: 0.0417

Gnomad4 EAS AF: 0.0489

Gnomad4 SAS AF: 0.0377

Gnomad4 FIN AF: 0.0898

Gnomad4 NFE AF: 0.0788

Gnomad4 OTH AF: 0.0884

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;