rs17834326

chr11-1730756-G-Achr11-1730756-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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;