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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.0346

Gnomad4 AMR AF: 0.0716

Gnomad4 ASJ AF: 0.0974

Gnomad4 EAS AF: 0.0276

Gnomad4 SAS AF: 0.0921

Gnomad4 FIN AF: 0.0575

Gnomad4 NFE AF: 0.0915

Gnomad4 OTH AF: 0.0842

Alfa AF: 0.0872 Hom.: 428

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17834326; hg19: chr11-1751986;