rs4733655

Variant names:

• chr8-127556611-G-A
• rs4733655

Your query was ambiguous. Multiple possible variants found:

• chr8-127556611-G-A
• chr8-127556611-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 0.271 in 151,984 control chromosomes in the GnomAD database, including 6,156 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 0.27 (6156 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.318
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.433 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: 0.271 AC: 41167 AN: 151866 Hom.: 6132 Cov.: 32

Gnomad AFR AF: 0.175

Gnomad AMI AF: 0.148

Gnomad AMR AF: 0.440

Gnomad ASJ AF: 0.243

Gnomad EAS AF: 0.250

Gnomad SAS AF: 0.284

Gnomad FIN AF: 0.327

Gnomad MID AF: 0.256

Gnomad NFE AF: 0.287

Gnomad OTH AF: 0.276

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

GnomAD4 genome AF: 0.271 AC: 41231 AN: 151984 Hom.: 6156 Cov.: 32 AF XY: 0.275 AC XY: 20397 AN XY: 74272

African (AFR) AF: 0.175 AC: 7251 AN: 41466

American (AMR) AF: 0.441 AC: 6739 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.243 AC: 842 AN: 3468

East Asian (EAS) AF: 0.251 AC: 1299 AN: 5178

South Asian (SAS) AF: 0.286 AC: 1377 AN: 4812

European-Finnish (FIN) AF: 0.327 AC: 3450 AN: 10542

Middle Eastern (MID) AF: 0.262 AC: 77 AN: 294

European-Non Finnish (NFE) AF: 0.287 AC: 19471 AN: 67942

Other (OTH) AF: 0.281 AC: 590 AN: 2102

Alfa AF: 0.276 Hom.: 20395

Bravo AF: 0.271

Asia WGS AF: 0.302 AC: 1052 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.83
DANN	Benign	0.40
PhyloP100		-0.32

Splicing

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

Other links and lift over

dbSNP: rs4733655; hg19: chr8-128568856;