rs4739483

Variant names:

• chr8-37219200-T-C
• rs4739483

Your query was ambiguous. Multiple possible variants found:

• chr8-37219200-T-C
• chr8-37219200-T-G

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 0.442 in 152,102 control chromosomes in the GnomAD database, including 16,185 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 0.44 (16185 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.890
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.539 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: 0.442 AC: 67138 AN: 151984 Hom.: 16176 Cov.: 33

Gnomad AFR AF: 0.236

Gnomad AMI AF: 0.435

Gnomad AMR AF: 0.499

Gnomad ASJ AF: 0.421

Gnomad EAS AF: 0.556

Gnomad SAS AF: 0.527

Gnomad FIN AF: 0.543

Gnomad MID AF: 0.328

Gnomad NFE AF: 0.526

Gnomad OTH AF: 0.436

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

GnomAD4 genome AF: 0.442 AC: 67157 AN: 152102 Hom.: 16185 Cov.: 33 AF XY: 0.445 AC XY: 33092 AN XY: 74324

African (AFR) AF: 0.236 AC: 9780 AN: 41516

American (AMR) AF: 0.499 AC: 7634 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.421 AC: 1460 AN: 3470

East Asian (EAS) AF: 0.556 AC: 2871 AN: 5162

South Asian (SAS) AF: 0.529 AC: 2545 AN: 4814

European-Finnish (FIN) AF: 0.543 AC: 5735 AN: 10552

Middle Eastern (MID) AF: 0.315 AC: 92 AN: 292

European-Non Finnish (NFE) AF: 0.526 AC: 35726 AN: 67984

Other (OTH) AF: 0.434 AC: 917 AN: 2114

Alfa AF: 0.493 Hom.: 11477

Bravo AF: 0.426

Asia WGS AF: 0.463 AC: 1608 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	0.79
DANN	Benign	0.41
PhyloP100		-0.89

Splicing

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

Other links and lift over

dbSNP: rs4739483; hg19: chr8-37076718;