rs4823535

Variant names:

• chr22-48435146-G-A
• rs4823535

Your query was ambiguous. Multiple possible variants found:

• chr22-48435146-G-A
• chr22-48435146-G-C
• chr22-48435146-G-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 0.286 in 151,296 control chromosomes in the GnomAD database, including 6,472 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 0.29 (6472 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.72
• Publications: 5 publications found

ACMG classification

Our verdict: Benign. The variant received -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 = 0.476 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: 0.286 AC: 43315 AN: 151188 Hom.: 6476 Cov.: 31

Gnomad AFR AF: 0.226

Gnomad AMI AF: 0.298

Gnomad AMR AF: 0.303

Gnomad ASJ AF: 0.276

Gnomad EAS AF: 0.492

Gnomad SAS AF: 0.315

Gnomad FIN AF: 0.356

Gnomad MID AF: 0.206

Gnomad NFE AF: 0.293

Gnomad OTH AF: 0.264

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

GnomAD4 genome AF: 0.286 AC: 43325 AN: 151296 Hom.: 6472 Cov.: 31 AF XY: 0.290 AC XY: 21412 AN XY: 73872

African (AFR) AF: 0.226 AC: 9308 AN: 41214

American (AMR) AF: 0.303 AC: 4609 AN: 15222

Ashkenazi Jewish (ASJ) AF: 0.276 AC: 958 AN: 3466

East Asian (EAS) AF: 0.492 AC: 2507 AN: 5100

South Asian (SAS) AF: 0.315 AC: 1509 AN: 4794

European-Finnish (FIN) AF: 0.356 AC: 3678 AN: 10344

Middle Eastern (MID) AF: 0.214 AC: 63 AN: 294

European-Non Finnish (NFE) AF: 0.293 AC: 19868 AN: 67854

Other (OTH) AF: 0.264 AC: 554 AN: 2100

Alfa AF: 0.297 Hom.: 13179

Bravo AF: 0.282

Asia WGS AF: 0.348 AC: 1209 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.16
DANN	Benign	0.48
PhyloP100		-1.7

Splicing

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

Other links and lift over

dbSNP: rs4823535; hg19: chr22-48830958;