rs11018214

Variant names:

• chr10-127590423-G-A
• rs11018214

Your query was ambiguous. Multiple possible variants found:

• chr10-127590423-G-A
• chr10-127590423-G-C

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 0.152 in 152,172 control chromosomes in the GnomAD database, including 2,218 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 0.15 (2218 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.73
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.388 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: 0.152 AC: 23135 AN: 152054 Hom.: 2206 Cov.: 32

Gnomad AFR AF: 0.159

Gnomad AMI AF: 0.111

Gnomad AMR AF: 0.248

Gnomad ASJ AF: 0.109

Gnomad EAS AF: 0.402

Gnomad SAS AF: 0.262

Gnomad FIN AF: 0.116

Gnomad MID AF: 0.111

Gnomad NFE AF: 0.109

Gnomad OTH AF: 0.153

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

GnomAD4 genome AF: 0.152 AC: 23167 AN: 152172 Hom.: 2218 Cov.: 32 AF XY: 0.157 AC XY: 11663 AN XY: 74404

African (AFR) AF: 0.158 AC: 6570 AN: 41514

American (AMR) AF: 0.249 AC: 3801 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.109 AC: 379 AN: 3472

East Asian (EAS) AF: 0.402 AC: 2073 AN: 5156

South Asian (SAS) AF: 0.261 AC: 1258 AN: 4816

European-Finnish (FIN) AF: 0.116 AC: 1226 AN: 10602

Middle Eastern (MID) AF: 0.0986 AC: 29 AN: 294

European-Non Finnish (NFE) AF: 0.109 AC: 7390 AN: 68002

Other (OTH) AF: 0.161 AC: 340 AN: 2114

Alfa AF: 0.133 Hom.: 1662

Bravo AF: 0.162

Asia WGS AF: 0.346 AC: 1204 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	3.9
DANN	Benign	0.56
PhyloP100		1.7

Splicing

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

Other links and lift over

dbSNP: rs11018214; hg19: chr10-129388687;