rs4833467

Variant names:

• chr4-114746031-A-G
• rs4833467

Your query was ambiguous. Multiple possible variants found:

• chr4-114746031-A-G
• chr4-114746031-A-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 0.643 in 151,922 control chromosomes in the GnomAD database, including 32,195 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 0.64 (32195 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.61

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.798 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: 0.643 AC: 97592 AN: 151804 Hom.: 32138 Cov.: 30

Gnomad AFR AF: 0.768

Gnomad AMI AF: 0.563

Gnomad AMR AF: 0.637

Gnomad ASJ AF: 0.475

Gnomad EAS AF: 0.819

Gnomad SAS AF: 0.716

Gnomad FIN AF: 0.596

Gnomad MID AF: 0.563

Gnomad NFE AF: 0.567

Gnomad OTH AF: 0.622

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

GnomAD4 genome AF: 0.643 AC: 97712 AN: 151922 Hom.: 32195 Cov.: 30 AF XY: 0.648 AC XY: 48139 AN XY: 74242

Gnomad4 AFR AF: 0.769

Gnomad4 AMR AF: 0.638

Gnomad4 ASJ AF: 0.475

Gnomad4 EAS AF: 0.819

Gnomad4 SAS AF: 0.716

Gnomad4 FIN AF: 0.596

Gnomad4 NFE AF: 0.567

Gnomad4 OTH AF: 0.627

Alfa AF: 0.568 Hom.: 33907

Bravo AF: 0.651

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.47
DANN	Benign	0.54

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4833467; hg19: chr4-115667187;