rs2018368

Variant names:

• chr11-10718819-C-G
• rs2018368

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 0.594 in 151,974 control chromosomes in the GnomAD database, including 27,919 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 0.59 (27919 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.450

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.814 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: 0.594 AC: 90160 AN: 151854 Hom.: 27867 Cov.: 31

Gnomad AFR AF: 0.740

Gnomad AMI AF: 0.426

Gnomad AMR AF: 0.689

Gnomad ASJ AF: 0.556

Gnomad EAS AF: 0.836

Gnomad SAS AF: 0.586

Gnomad FIN AF: 0.464

Gnomad MID AF: 0.611

Gnomad NFE AF: 0.489

Gnomad OTH AF: 0.601

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

GnomAD4 genome AF: 0.594 AC: 90271 AN: 151974 Hom.: 27919 Cov.: 31 AF XY: 0.594 AC XY: 44081 AN XY: 74260

Gnomad4 AFR AF: 0.741

Gnomad4 AMR AF: 0.690

Gnomad4 ASJ AF: 0.556

Gnomad4 EAS AF: 0.835

Gnomad4 SAS AF: 0.587

Gnomad4 FIN AF: 0.464

Gnomad4 NFE AF: 0.489

Gnomad4 OTH AF: 0.599

Alfa AF: 0.538 Hom.: 2814

Bravo AF: 0.623

Asia WGS AF: 0.673 AC: 2336 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.62
DANN	Benign	0.43

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2018368; hg19: chr11-10740366;