rs3842204

Positions:

• chr8-6926777-AT-A

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

The variant allele was found at a frequency of 0.0718 in 152,218 control chromosomes in the GnomAD database, including 558 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.072 (558 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.19

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.217 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.0719 AC: 10929 AN: 152100 Hom.: 558 Cov.: 32

Gnomad AFR AF: 0.0286

Gnomad AMI AF: 0.0932

Gnomad AMR AF: 0.138

Gnomad ASJ AF: 0.0873

Gnomad EAS AF: 0.228

Gnomad SAS AF: 0.0870

Gnomad FIN AF: 0.116

Gnomad MID AF: 0.0380

Gnomad NFE AF: 0.0628

Gnomad OTH AF: 0.0651

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

GnomAD4 genome AF: 0.0718 AC: 10936 AN: 152218 Hom.: 558 Cov.: 32 AF XY: 0.0784 AC XY: 5838 AN XY: 74422

Gnomad4 AFR AF: 0.0286

Gnomad4 AMR AF: 0.138

Gnomad4 ASJ AF: 0.0873

Gnomad4 EAS AF: 0.228

Gnomad4 SAS AF: 0.0869

Gnomad4 FIN AF: 0.116

Gnomad4 NFE AF: 0.0628

Gnomad4 OTH AF: 0.0634

Alfa AF: 0.0719 Hom.: 57

Bravo AF: 0.0714

Asia WGS AF: 0.154 AC: 536 AN: 3476

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: rs3842204; hg19: chr8-6784299;