8-33258026-G-A

Variant names:

• chr8-33258026-G-A
• rs7843085

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.397 in 151,988 control chromosomes in the GnomAD database, including 13,050 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.40 (13050 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.605
• Publications: 4 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.8 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.397 AC: 60295 AN: 151870 Hom.: 13033 Cov.: 32

Gnomad AFR AF: 0.456

Gnomad AMI AF: 0.467

Gnomad AMR AF: 0.476

Gnomad ASJ AF: 0.329

Gnomad EAS AF: 0.820

Gnomad SAS AF: 0.596

Gnomad FIN AF: 0.277

Gnomad MID AF: 0.449

Gnomad NFE AF: 0.318

Gnomad OTH AF: 0.403

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

GnomAD4 genome AF: 0.397 AC: 60350 AN: 151988 Hom.: 13050 Cov.: 32 AF XY: 0.401 AC XY: 29823 AN XY: 74298

African (AFR) AF: 0.457 AC: 18915 AN: 41428

American (AMR) AF: 0.476 AC: 7272 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.329 AC: 1141 AN: 3472

East Asian (EAS) AF: 0.820 AC: 4248 AN: 5178

South Asian (SAS) AF: 0.594 AC: 2858 AN: 4810

European-Finnish (FIN) AF: 0.277 AC: 2932 AN: 10572

Middle Eastern (MID) AF: 0.442 AC: 130 AN: 294

European-Non Finnish (NFE) AF: 0.318 AC: 21585 AN: 67952

Other (OTH) AF: 0.400 AC: 844 AN: 2108

Alfa AF: 0.345 Hom.: 33628

Bravo AF: 0.415

Asia WGS AF: 0.700 AC: 2431 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.80
DANN	Benign	0.42
PhyloP100		-0.60

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs7843085; hg19: chr8-33115544;