rs4733601

Variant names:

• chr8-128257220-A-G
• rs4733601

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 0.41 in 152,146 control chromosomes in the GnomAD database, including 14,419 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 0.41 (14419 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.769
• Publications: 23 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.68).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.514 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: 0.410 AC: 62267 AN: 152028 Hom.: 14414 Cov.: 33

Gnomad AFR AF: 0.232

Gnomad AMI AF: 0.522

Gnomad AMR AF: 0.421

Gnomad ASJ AF: 0.390

Gnomad EAS AF: 0.0536

Gnomad SAS AF: 0.306

Gnomad FIN AF: 0.608

Gnomad MID AF: 0.367

Gnomad NFE AF: 0.518

Gnomad OTH AF: 0.414

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

GnomAD4 genome AF: 0.410 AC: 62304 AN: 152146 Hom.: 14419 Cov.: 33 AF XY: 0.409 AC XY: 30430 AN XY: 74366

African (AFR) AF: 0.232 AC: 9636 AN: 41534

American (AMR) AF: 0.421 AC: 6442 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.390 AC: 1352 AN: 3466

East Asian (EAS) AF: 0.0535 AC: 277 AN: 5178

South Asian (SAS) AF: 0.308 AC: 1484 AN: 4818

European-Finnish (FIN) AF: 0.608 AC: 6424 AN: 10566

Middle Eastern (MID) AF: 0.371 AC: 109 AN: 294

European-Non Finnish (NFE) AF: 0.518 AC: 35237 AN: 67970

Other (OTH) AF: 0.411 AC: 868 AN: 2114

Alfa AF: 0.480 Hom.: 59017

Bravo AF: 0.386

Asia WGS AF: 0.184 AC: 642 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.68
CADD	Benign	14
DANN	Benign	0.88
PhyloP100		0.77

Splicing

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

Other links and lift over

dbSNP: rs4733601; hg19: chr8-129269466;