rs17042026

Variant names:

• chr4-110711218-G-A
• rs17042026

Your query was ambiguous. Multiple possible variants found:

• chr4-110711218-G-A
• chr4-110711218-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 0.163 in 151,938 control chromosomes in the GnomAD database, including 2,281 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 0.16 (2281 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 3.58
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.8).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.257 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.163 AC: 24758 AN: 151820 Hom.: 2282 Cov.: 31

Gnomad AFR AF: 0.117

Gnomad AMI AF: 0.0669

Gnomad AMR AF: 0.150

Gnomad ASJ AF: 0.323

Gnomad EAS AF: 0.268

Gnomad SAS AF: 0.151

Gnomad FIN AF: 0.195

Gnomad MID AF: 0.232

Gnomad NFE AF: 0.174

Gnomad OTH AF: 0.176

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

GnomAD4 genome AF: 0.163 AC: 24771 AN: 151938 Hom.: 2281 Cov.: 31 AF XY: 0.168 AC XY: 12451 AN XY: 74248

African (AFR) AF: 0.117 AC: 4859 AN: 41456

American (AMR) AF: 0.150 AC: 2286 AN: 15246

Ashkenazi Jewish (ASJ) AF: 0.323 AC: 1119 AN: 3466

East Asian (EAS) AF: 0.268 AC: 1379 AN: 5136

South Asian (SAS) AF: 0.151 AC: 725 AN: 4812

European-Finnish (FIN) AF: 0.195 AC: 2063 AN: 10568

Middle Eastern (MID) AF: 0.233 AC: 68 AN: 292

European-Non Finnish (NFE) AF: 0.174 AC: 11836 AN: 67936

Other (OTH) AF: 0.177 AC: 375 AN: 2114

Alfa AF: 0.176 Hom.: 744

Bravo AF: 0.157

Asia WGS AF: 0.187 AC: 650 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
CADD	Benign	8.0
DANN	Benign	0.40
PhyloP100		3.6

Splicing

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

Other links and lift over

dbSNP: rs17042026; hg19: chr4-111632374;