rs11080702

Variant names:

• chr18-13943769-G-A
• rs11080702

Your query was ambiguous. Multiple possible variants found:

• chr18-13943769-G-A
• chr18-13943769-G-C

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 0.8 in 152,158 control chromosomes in the GnomAD database, including 49,790 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 0.80 (49790 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.102

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 = 0.958 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: 0.800 AC: 121682 AN: 152040 Hom.: 49772 Cov.: 32

Gnomad AFR AF: 0.618

Gnomad AMI AF: 0.823

Gnomad AMR AF: 0.871

Gnomad ASJ AF: 0.790

Gnomad EAS AF: 0.980

Gnomad SAS AF: 0.939

Gnomad FIN AF: 0.883

Gnomad MID AF: 0.826

Gnomad NFE AF: 0.859

Gnomad OTH AF: 0.801

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

GnomAD4 genome AF: 0.800 AC: 121734 AN: 152158 Hom.: 49790 Cov.: 32 AF XY: 0.805 AC XY: 59909 AN XY: 74412

Gnomad4 AFR AF: 0.618

Gnomad4 AMR AF: 0.872

Gnomad4 ASJ AF: 0.790

Gnomad4 EAS AF: 0.980

Gnomad4 SAS AF: 0.939

Gnomad4 FIN AF: 0.883

Gnomad4 NFE AF: 0.859

Gnomad4 OTH AF: 0.803

Alfa AF: 0.828 Hom.: 8935

Bravo AF: 0.790

Asia WGS AF: 0.937 AC: 3260 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	0.39
DANN	Benign	0.72

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11080702; hg19: chr18-13943768;