8-33269481-T-G

Position:

• chr8-33269481-T-G

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.458 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

Gnomad4 AFR AF: 0.665

Gnomad4 AMR AF: 0.498

Gnomad4 ASJ AF: 0.328

Gnomad4 EAS AF: 0.822

Gnomad4 SAS AF: 0.595

Gnomad4 FIN AF: 0.287

Gnomad4 NFE AF: 0.318

Gnomad4 OTH AF: 0.446

Alfa AF: 0.336 Hom.: 4168

Bravo AF: 0.484

Asia WGS AF: 0.721 AC: 2507 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs13273924; hg19: chr8-33126999;