rs4739755

Variant names:

• chr8-80590957-A-G
• rs4739755

Your query was ambiguous. Multiple possible variants found:

• chr8-80590957-A-G
• chr8-80590957-A-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 0.152 in 152,030 control chromosomes in the GnomAD database, including 2,326 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 0.15 (2326 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.692
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.294 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: 0.152 AC: 23026 AN: 151918 Hom.: 2315 Cov.: 31

Gnomad AFR AF: 0.0370

Gnomad AMI AF: 0.0833

Gnomad AMR AF: 0.259

Gnomad ASJ AF: 0.179

Gnomad EAS AF: 0.305

Gnomad SAS AF: 0.306

Gnomad FIN AF: 0.112

Gnomad MID AF: 0.177

Gnomad NFE AF: 0.180

Gnomad OTH AF: 0.168

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

GnomAD4 genome AF: 0.152 AC: 23046 AN: 152030 Hom.: 2326 Cov.: 31 AF XY: 0.154 AC XY: 11472 AN XY: 74304

African (AFR) AF: 0.0369 AC: 1532 AN: 41486

American (AMR) AF: 0.260 AC: 3959 AN: 15248

Ashkenazi Jewish (ASJ) AF: 0.179 AC: 620 AN: 3470

East Asian (EAS) AF: 0.306 AC: 1586 AN: 5180

South Asian (SAS) AF: 0.307 AC: 1478 AN: 4814

European-Finnish (FIN) AF: 0.112 AC: 1181 AN: 10570

Middle Eastern (MID) AF: 0.187 AC: 55 AN: 294

European-Non Finnish (NFE) AF: 0.180 AC: 12205 AN: 67948

Other (OTH) AF: 0.168 AC: 354 AN: 2108

Alfa AF: 0.174 Hom.: 7379

Bravo AF: 0.158

Asia WGS AF: 0.273 AC: 947 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	4.9
DANN	Benign	0.64
PhyloP100		0.69

Splicing

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

Other links and lift over

dbSNP: rs4739755; hg19: chr8-81503192;