8-33269481-T-G

Variant names:

• chr8-33269481-T-G
• rs13273924

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 0.458 in 152,050 control chromosomes in the GnomAD database, including 18,229 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 0.46 (18229 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.643
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.801 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.458 AC: 69511 AN: 151932 Hom.: 18178 Cov.: 32

Gnomad AFR AF: 0.664

Gnomad AMI AF: 0.466

Gnomad AMR AF: 0.498

Gnomad ASJ AF: 0.328

Gnomad EAS AF: 0.822

Gnomad SAS AF: 0.597

Gnomad FIN AF: 0.287

Gnomad MID AF: 0.453

Gnomad NFE AF: 0.318

Gnomad OTH AF: 0.445

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

GnomAD4 genome AF: 0.458 AC: 69617 AN: 152050 Hom.: 18229 Cov.: 32 AF XY: 0.461 AC XY: 34280 AN XY: 74328

African (AFR) AF: 0.665 AC: 27599 AN: 41492

American (AMR) AF: 0.498 AC: 7611 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.328 AC: 1139 AN: 3468

East Asian (EAS) AF: 0.822 AC: 4248 AN: 5170

South Asian (SAS) AF: 0.595 AC: 2866 AN: 4820

European-Finnish (FIN) AF: 0.287 AC: 3032 AN: 10572

Middle Eastern (MID) AF: 0.446 AC: 131 AN: 294

European-Non Finnish (NFE) AF: 0.318 AC: 21626 AN: 67942

Other (OTH) AF: 0.446 AC: 942 AN: 2112

Alfa AF: 0.340 Hom.: 4805

Bravo AF: 0.484

Asia WGS AF: 0.721 AC: 2507 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.42
DANN	Benign	0.38
PhyloP100		-0.64

Splicing

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

Other links and lift over

dbSNP: rs13273924; hg19: chr8-33126999;