rs10894846

Variant names:

• chr11-134578921-A-C
• rs10894846

Your query was ambiguous. Multiple possible variants found:

• chr11-134578921-A-C
• chr11-134578921-A-G

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 0.25 in 152,046 control chromosomes in the GnomAD database, including 5,518 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 0.25 (5518 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.02

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.515 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: 0.250 AC: 38045 AN: 151928 Hom.: 5500 Cov.: 33

Gnomad AFR AF: 0.332

Gnomad AMI AF: 0.103

Gnomad AMR AF: 0.342

Gnomad ASJ AF: 0.224

Gnomad EAS AF: 0.531

Gnomad SAS AF: 0.184

Gnomad FIN AF: 0.142

Gnomad MID AF: 0.332

Gnomad NFE AF: 0.184

Gnomad OTH AF: 0.250

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

GnomAD4 genome AF: 0.250 AC: 38087 AN: 152046 Hom.: 5518 Cov.: 33 AF XY: 0.252 AC XY: 18749 AN XY: 74326

Gnomad4 AFR AF: 0.332

Gnomad4 AMR AF: 0.343

Gnomad4 ASJ AF: 0.224

Gnomad4 EAS AF: 0.531

Gnomad4 SAS AF: 0.184

Gnomad4 FIN AF: 0.142

Gnomad4 NFE AF: 0.184

Gnomad4 OTH AF: 0.247

Alfa AF: 0.225 Hom.: 1139

Bravo AF: 0.277

Asia WGS AF: 0.323 AC: 1120 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.036
DANN	Benign	0.23

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10894846; hg19: chr11-134448815;