rs4833834

Variant names:

• chr4-122545196-A-G
• rs4833834

Your query was ambiguous. Multiple possible variants found:

• chr4-122545196-A-G
• chr4-122545196-A-T

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 0.0921 in 152,204 control chromosomes in the GnomAD database, including 878 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 0.092 (878 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.336
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.252 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: 0.0922 AC: 14019 AN: 152086 Hom.: 876 Cov.: 32

Gnomad AFR AF: 0.0191

Gnomad AMI AF: 0.105

Gnomad AMR AF: 0.0803

Gnomad ASJ AF: 0.204

Gnomad EAS AF: 0.116

Gnomad SAS AF: 0.263

Gnomad FIN AF: 0.164

Gnomad MID AF: 0.191

Gnomad NFE AF: 0.107

Gnomad OTH AF: 0.115

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

GnomAD4 genome AF: 0.0921 AC: 14021 AN: 152204 Hom.: 878 Cov.: 32 AF XY: 0.0983 AC XY: 7316 AN XY: 74404

African (AFR) AF: 0.0191 AC: 795 AN: 41564

American (AMR) AF: 0.0801 AC: 1225 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.204 AC: 707 AN: 3470

East Asian (EAS) AF: 0.116 AC: 603 AN: 5186

South Asian (SAS) AF: 0.264 AC: 1268 AN: 4810

European-Finnish (FIN) AF: 0.164 AC: 1733 AN: 10578

Middle Eastern (MID) AF: 0.192 AC: 56 AN: 292

European-Non Finnish (NFE) AF: 0.107 AC: 7296 AN: 67996

Other (OTH) AF: 0.115 AC: 242 AN: 2112

Alfa AF: 0.0999 Hom.: 612

Bravo AF: 0.0786

Asia WGS AF: 0.182 AC: 633 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	1.0
DANN	Benign	0.59
PhyloP100		-0.34

Splicing

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

Other links and lift over

dbSNP: rs4833834; hg19: chr4-123466351;