rs11018023

Variant names:

• chr10-131531763-G-A
• rs11018023

Your query was ambiguous. Multiple possible variants found:

• chr10-131531763-G-A
• chr10-131531763-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 0.183 in 152,066 control chromosomes in the GnomAD database, including 2,978 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 0.18 (2978 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.876
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.441 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: 0.183 AC: 27858 AN: 151948 Hom.: 2974 Cov.: 34

Gnomad AFR AF: 0.116

Gnomad AMI AF: 0.231

Gnomad AMR AF: 0.176

Gnomad ASJ AF: 0.330

Gnomad EAS AF: 0.457

Gnomad SAS AF: 0.155

Gnomad FIN AF: 0.137

Gnomad MID AF: 0.178

Gnomad NFE AF: 0.207

Gnomad OTH AF: 0.163

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

GnomAD4 genome AF: 0.183 AC: 27872 AN: 152066 Hom.: 2978 Cov.: 34 AF XY: 0.181 AC XY: 13463 AN XY: 74334

African (AFR) AF: 0.117 AC: 4839 AN: 41506

American (AMR) AF: 0.176 AC: 2692 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.330 AC: 1145 AN: 3466

East Asian (EAS) AF: 0.457 AC: 2345 AN: 5136

South Asian (SAS) AF: 0.155 AC: 744 AN: 4812

European-Finnish (FIN) AF: 0.137 AC: 1454 AN: 10610

Middle Eastern (MID) AF: 0.178 AC: 52 AN: 292

European-Non Finnish (NFE) AF: 0.207 AC: 14049 AN: 67940

Other (OTH) AF: 0.163 AC: 343 AN: 2104

Alfa AF: 0.206 Hom.: 8160

Bravo AF: 0.186

Asia WGS AF: 0.270 AC: 942 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	1.1
DANN	Benign	0.53
PhyloP100		-0.88

Splicing

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

Other links and lift over

dbSNP: rs11018023; hg19: chr10-133330026;