rs10831284

Variant names:

• chr11-94934799-G-A
• rs10831284

Your query was ambiguous. Multiple possible variants found:

• chr11-94934799-G-A
• chr11-94934799-G-C
• chr11-94934799-G-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 0.777 in 152,090 control chromosomes in the GnomAD database, including 47,796 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 0.78 (47796 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00400
• Publications: 14 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.925 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: 0.777 AC: 118058 AN: 151972 Hom.: 47782 Cov.: 31

Gnomad AFR AF: 0.524

Gnomad AMI AF: 0.888

Gnomad AMR AF: 0.872

Gnomad ASJ AF: 0.919

Gnomad EAS AF: 0.947

Gnomad SAS AF: 0.931

Gnomad FIN AF: 0.837

Gnomad MID AF: 0.889

Gnomad NFE AF: 0.866

Gnomad OTH AF: 0.814

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

GnomAD4 genome AF: 0.777 AC: 118117 AN: 152090 Hom.: 47796 Cov.: 31 AF XY: 0.780 AC XY: 58044 AN XY: 74370

African (AFR) AF: 0.524 AC: 21684 AN: 41414

American (AMR) AF: 0.872 AC: 13341 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.919 AC: 3190 AN: 3470

East Asian (EAS) AF: 0.947 AC: 4900 AN: 5176

South Asian (SAS) AF: 0.931 AC: 4489 AN: 4820

European-Finnish (FIN) AF: 0.837 AC: 8856 AN: 10586

Middle Eastern (MID) AF: 0.888 AC: 261 AN: 294

European-Non Finnish (NFE) AF: 0.866 AC: 58862 AN: 68008

Other (OTH) AF: 0.816 AC: 1724 AN: 2114

Alfa AF: 0.840 Hom.: 180903

Bravo AF: 0.768

Asia WGS AF: 0.908 AC: 3156 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	1.7
DANN	Benign	0.81
PhyloP100		0.0040

Splicing

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

Other links and lift over

dbSNP: rs10831284; hg19: chr11-94667964;