rs11082098

Variant names:

• chr18-38618768-C-A
• rs11082098

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 0.0805 in 152,012 control chromosomes in the GnomAD database, including 655 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 0.080 (655 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.173
• Publications: 1 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 (AMR) allele frequency at 95% confidence interval = 0.178 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: 0.0803 AC: 12204 AN: 151892 Hom.: 647 Cov.: 32

Gnomad AFR AF: 0.0548

Gnomad AMI AF: 0.0647

Gnomad AMR AF: 0.183

Gnomad ASJ AF: 0.0286

Gnomad EAS AF: 0.155

Gnomad SAS AF: 0.134

Gnomad FIN AF: 0.0929

Gnomad MID AF: 0.0443

Gnomad NFE AF: 0.0647

Gnomad OTH AF: 0.0699

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

GnomAD4 genome AF: 0.0805 AC: 12231 AN: 152012 Hom.: 655 Cov.: 32 AF XY: 0.0846 AC XY: 6284 AN XY: 74288

African (AFR) AF: 0.0548 AC: 2275 AN: 41488

American (AMR) AF: 0.184 AC: 2809 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.0286 AC: 99 AN: 3466

East Asian (EAS) AF: 0.154 AC: 798 AN: 5170

South Asian (SAS) AF: 0.134 AC: 646 AN: 4826

European-Finnish (FIN) AF: 0.0929 AC: 979 AN: 10534

Middle Eastern (MID) AF: 0.0374 AC: 11 AN: 294

European-Non Finnish (NFE) AF: 0.0647 AC: 4396 AN: 67948

Other (OTH) AF: 0.0754 AC: 159 AN: 2110

Alfa AF: 0.0691 Hom.: 222

Bravo AF: 0.0859

Asia WGS AF: 0.172 AC: 595 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	2.2
DANN	Benign	0.25
PhyloP100		0.17

Splicing

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

Other links and lift over

dbSNP: rs11082098; hg19: chr18-36198732; COSMIC: COSV57483257;