rs4733263

Variant names:

• chr8-31632958-G-A
• rs4733263

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 0.551 in 151,814 control chromosomes in the GnomAD database, including 23,609 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 0.55 (23609 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.721
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.623 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: 0.551 AC: 83575 AN: 151698 Hom.: 23599 Cov.: 32

Gnomad AFR AF: 0.433

Gnomad AMI AF: 0.623

Gnomad AMR AF: 0.634

Gnomad ASJ AF: 0.521

Gnomad EAS AF: 0.421

Gnomad SAS AF: 0.505

Gnomad FIN AF: 0.595

Gnomad MID AF: 0.509

Gnomad NFE AF: 0.612

Gnomad OTH AF: 0.536

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

GnomAD4 genome AF: 0.551 AC: 83606 AN: 151814 Hom.: 23609 Cov.: 32 AF XY: 0.551 AC XY: 40853 AN XY: 74194

African (AFR) AF: 0.432 AC: 17900 AN: 41388

American (AMR) AF: 0.634 AC: 9670 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.521 AC: 1809 AN: 3470

East Asian (EAS) AF: 0.420 AC: 2165 AN: 5160

South Asian (SAS) AF: 0.505 AC: 2431 AN: 4816

European-Finnish (FIN) AF: 0.595 AC: 6237 AN: 10474

Middle Eastern (MID) AF: 0.507 AC: 149 AN: 294

European-Non Finnish (NFE) AF: 0.612 AC: 41551 AN: 67934

Other (OTH) AF: 0.535 AC: 1128 AN: 2110

Alfa AF: 0.592 Hom.: 112012

Bravo AF: 0.548

Asia WGS AF: 0.503 AC: 1739 AN: 3454

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	7.1
DANN	Benign	0.20
PhyloP100		0.72

Splicing

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

Other links and lift over

dbSNP: rs4733263; hg19: chr8-31490474;