rs10894294

Variant names:

• chr11-130960853-C-A
• rs10894294

Your query was ambiguous. Multiple possible variants found:

• chr11-130960853-C-A
• chr11-130960853-C-G
• chr11-130960853-C-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 0.569 in 151,850 control chromosomes in the GnomAD database, including 25,492 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 0.57 (25492 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.20
• Publications: 13 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.728 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.569 AC: 86262 AN: 151732 Hom.: 25457 Cov.: 32

Gnomad AFR AF: 0.734

Gnomad AMI AF: 0.428

Gnomad AMR AF: 0.493

Gnomad ASJ AF: 0.430

Gnomad EAS AF: 0.539

Gnomad SAS AF: 0.596

Gnomad FIN AF: 0.486

Gnomad MID AF: 0.430

Gnomad NFE AF: 0.508

Gnomad OTH AF: 0.540

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

GnomAD4 genome AF: 0.569 AC: 86354 AN: 151850 Hom.: 25492 Cov.: 32 AF XY: 0.565 AC XY: 41906 AN XY: 74210

African (AFR) AF: 0.735 AC: 30438 AN: 41440

American (AMR) AF: 0.493 AC: 7519 AN: 15240

Ashkenazi Jewish (ASJ) AF: 0.430 AC: 1490 AN: 3464

East Asian (EAS) AF: 0.538 AC: 2771 AN: 5150

South Asian (SAS) AF: 0.596 AC: 2874 AN: 4824

European-Finnish (FIN) AF: 0.486 AC: 5121 AN: 10540

Middle Eastern (MID) AF: 0.425 AC: 125 AN: 294

European-Non Finnish (NFE) AF: 0.508 AC: 34483 AN: 67878

Other (OTH) AF: 0.542 AC: 1144 AN: 2112

Alfa AF: 0.528 Hom.: 16728

Bravo AF: 0.578

Asia WGS AF: 0.609 AC: 2120 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.22
DANN	Benign	0.15
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs10894294; hg19: chr11-130830748;