rs4128269

Variant names:

• chr8-83822486-C-A
• rs4128269

Your query was ambiguous. Multiple possible variants found:

• chr8-83822486-C-A
• chr8-83822486-C-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 0.195 in 152,072 control chromosomes in the GnomAD database, including 3,303 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 0.19 (3303 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.718
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.291 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: 0.195 AC: 29615 AN: 151954 Hom.: 3300 Cov.: 33

Gnomad AFR AF: 0.296

Gnomad AMI AF: 0.124

Gnomad AMR AF: 0.136

Gnomad ASJ AF: 0.175

Gnomad EAS AF: 0.00193

Gnomad SAS AF: 0.0917

Gnomad FIN AF: 0.144

Gnomad MID AF: 0.124

Gnomad NFE AF: 0.179

Gnomad OTH AF: 0.177

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

GnomAD4 genome AF: 0.195 AC: 29636 AN: 152072 Hom.: 3303 Cov.: 33 AF XY: 0.188 AC XY: 14002 AN XY: 74358

African (AFR) AF: 0.296 AC: 12262 AN: 41474

American (AMR) AF: 0.136 AC: 2071 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.175 AC: 607 AN: 3470

East Asian (EAS) AF: 0.00193 AC: 10 AN: 5180

South Asian (SAS) AF: 0.0917 AC: 442 AN: 4818

European-Finnish (FIN) AF: 0.144 AC: 1525 AN: 10572

Middle Eastern (MID) AF: 0.130 AC: 38 AN: 292

European-Non Finnish (NFE) AF: 0.179 AC: 12192 AN: 67966

Other (OTH) AF: 0.178 AC: 376 AN: 2108

Alfa AF: 0.180 Hom.: 351

Bravo AF: 0.199

Asia WGS AF: 0.0830 AC: 286 AN: 3464

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.20
DANN	Benign	0.16
PhyloP100		-0.72

Splicing

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

Other links and lift over

dbSNP: rs4128269; hg19: chr8-84734721;