rs4433125

Variant names:

• chr8-143026084-G-A
• rs4433125

Your query was ambiguous. Multiple possible variants found:

• chr8-143026084-G-A
• chr8-143026084-G-C
• chr8-143026084-G-T

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 0.319 in 152,172 control chromosomes in the GnomAD database, including 8,270 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 0.32 (8270 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.416

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.541 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: 0.319 AC: 48527 AN: 152054 Hom.: 8256 Cov.: 33

Gnomad AFR AF: 0.243

Gnomad AMI AF: 0.300

Gnomad AMR AF: 0.377

Gnomad ASJ AF: 0.281

Gnomad EAS AF: 0.558

Gnomad SAS AF: 0.227

Gnomad FIN AF: 0.400

Gnomad MID AF: 0.291

Gnomad NFE AF: 0.331

Gnomad OTH AF: 0.316

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

GnomAD4 genome AF: 0.319 AC: 48559 AN: 152172 Hom.: 8270 Cov.: 33 AF XY: 0.320 AC XY: 23818 AN XY: 74410

Gnomad4 AFR AF: 0.242

Gnomad4 AMR AF: 0.378

Gnomad4 ASJ AF: 0.281

Gnomad4 EAS AF: 0.558

Gnomad4 SAS AF: 0.227

Gnomad4 FIN AF: 0.400

Gnomad4 NFE AF: 0.331

Gnomad4 OTH AF: 0.322

Alfa AF: 0.253 Hom.: 1080

Bravo AF: 0.317

Asia WGS AF: 0.373 AC: 1296 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	5.3
DANN	Benign	0.49

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4433125; hg19: chr8-144107501;