rs4833233

Variant names:

• chr4-121767589-G-A
• rs4833233

Your query was ambiguous. Multiple possible variants found:

• chr4-121767589-G-A
• chr4-121767589-G-C
• chr4-121767589-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 0.516 in 151,770 control chromosomes in the GnomAD database, including 20,377 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 0.52 (20377 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.503

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.552 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: 0.516 AC: 78193 AN: 151652 Hom.: 20361 Cov.: 30

Gnomad AFR AF: 0.558

Gnomad AMI AF: 0.475

Gnomad AMR AF: 0.550

Gnomad ASJ AF: 0.530

Gnomad EAS AF: 0.430

Gnomad SAS AF: 0.562

Gnomad FIN AF: 0.451

Gnomad MID AF: 0.541

Gnomad NFE AF: 0.495

Gnomad OTH AF: 0.512

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

GnomAD4 genome AF: 0.516 AC: 78262 AN: 151770 Hom.: 20377 Cov.: 30 AF XY: 0.515 AC XY: 38153 AN XY: 74152

Gnomad4 AFR AF: 0.558

Gnomad4 AMR AF: 0.550

Gnomad4 ASJ AF: 0.530

Gnomad4 EAS AF: 0.430

Gnomad4 SAS AF: 0.562

Gnomad4 FIN AF: 0.451

Gnomad4 NFE AF: 0.496

Gnomad4 OTH AF: 0.511

Alfa AF: 0.503 Hom.: 39726

Bravo AF: 0.524

Asia WGS AF: 0.515 AC: 1792 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	13
DANN	Benign	0.63

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4833233; hg19: chr4-122688744;