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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.777 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

Gnomad4 AFR AF: 0.524

Gnomad4 AMR AF: 0.872

Gnomad4 ASJ AF: 0.919

Gnomad4 EAS AF: 0.947

Gnomad4 SAS AF: 0.931

Gnomad4 FIN AF: 0.837

Gnomad4 NFE AF: 0.866

Gnomad4 OTH AF: 0.816

Alfa AF: 0.861 Hom.: 113782

Bravo AF: 0.768

Asia WGS AF: 0.908 AC: 3156 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10831284; hg19: chr11-94667964;