rs17834326

Variant names:

• chr11-1730756-G-A
• rs17834326

Your query was ambiguous. Multiple possible variants found:

• chr11-1730756-G-A
• chr11-1730756-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 0.0692 in 152,332 control chromosomes in the GnomAD database, including 430 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 0.069 (430 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.31
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.0896 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: 0.0692 AC: 10535 AN: 152214 Hom.: 428 Cov.: 34

Gnomad AFR AF: 0.0346

Gnomad AMI AF: 0.0252

Gnomad AMR AF: 0.0718

Gnomad ASJ AF: 0.0974

Gnomad EAS AF: 0.0277

Gnomad SAS AF: 0.0924

Gnomad FIN AF: 0.0575

Gnomad MID AF: 0.130

Gnomad NFE AF: 0.0915

Gnomad OTH AF: 0.0832

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

GnomAD4 genome AF: 0.0692 AC: 10535 AN: 152332 Hom.: 430 Cov.: 34 AF XY: 0.0674 AC XY: 5024 AN XY: 74486

African (AFR) AF: 0.0346 AC: 1438 AN: 41572

American (AMR) AF: 0.0716 AC: 1096 AN: 15308

Ashkenazi Jewish (ASJ) AF: 0.0974 AC: 338 AN: 3472

East Asian (EAS) AF: 0.0276 AC: 143 AN: 5188

South Asian (SAS) AF: 0.0921 AC: 445 AN: 4832

European-Finnish (FIN) AF: 0.0575 AC: 611 AN: 10620

Middle Eastern (MID) AF: 0.126 AC: 37 AN: 294

European-Non Finnish (NFE) AF: 0.0915 AC: 6226 AN: 68020

Other (OTH) AF: 0.0842 AC: 178 AN: 2114

Alfa AF: 0.0836 Hom.: 589

Bravo AF: 0.0674

Asia WGS AF: 0.0830 AC: 289 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.12
DANN	Benign	0.21
PhyloP100		-1.3

Splicing

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

Other links and lift over

dbSNP: rs17834326; hg19: chr11-1751986;