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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.163 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

Gnomad4 AFR AF: 0.117

Gnomad4 AMR AF: 0.150

Gnomad4 ASJ AF: 0.323

Gnomad4 EAS AF: 0.268

Gnomad4 SAS AF: 0.151

Gnomad4 FIN AF: 0.195

Gnomad4 NFE AF: 0.174

Gnomad4 OTH AF: 0.177

Alfa AF: 0.180 Hom.: 678

Bravo AF: 0.157

Asia WGS AF: 0.187 AC: 650 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17042026; hg19: chr4-111632374;