rs11794727

Variant names:

• chr9-108673352-A-G
• rs11794727

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 0.0596 in 152,338 control chromosomes in the GnomAD database, including 347 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 0.060 (347 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.322

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0818 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: 0.0596 AC: 9067 AN: 152220 Hom.: 348 Cov.: 32

Gnomad AFR AF: 0.0276

Gnomad AMI AF: 0.0680

Gnomad AMR AF: 0.0765

Gnomad ASJ AF: 0.0530

Gnomad EAS AF: 0.00673

Gnomad SAS AF: 0.0368

Gnomad FIN AF: 0.0429

Gnomad MID AF: 0.0316

Gnomad NFE AF: 0.0836

Gnomad OTH AF: 0.0684

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

GnomAD4 genome AF: 0.0596 AC: 9073 AN: 152338 Hom.: 347 Cov.: 32 AF XY: 0.0577 AC XY: 4296 AN XY: 74496

Gnomad4 AFR AF: 0.0275

Gnomad4 AMR AF: 0.0763

Gnomad4 ASJ AF: 0.0530

Gnomad4 EAS AF: 0.00675

Gnomad4 SAS AF: 0.0373

Gnomad4 FIN AF: 0.0429

Gnomad4 NFE AF: 0.0836

Gnomad4 OTH AF: 0.0701

Alfa AF: 0.0790 Hom.: 720

Bravo AF: 0.0601

Asia WGS AF: 0.0460 AC: 162 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	0.77
DANN	Benign	0.55

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11794727; hg19: chr9-111435632;