rs11038167

Variant names:

• chr11-44821583-A-C
• rs11038167
• NM_130783.5:c.-152-38745A>C

Your query was ambiguous. Multiple possible variants found:

• chr11-44821583-A-C
• chr11-44821583-A-G

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_130783.5(TSPAN18):​c.-152-38745A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0534 in 152,184 control chromosomes in the GnomAD database, including 1,467 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 0.053 (1467 hom., cov: 32)
• Consequence: TSPAN18 NM_130783.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0510
• Publications: 23 publications found

Genes affected

TSPAN18 (HGNC:20660): (tetraspanin 18) Predicted to be integral component of membrane. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

TSPAN18 Gene-Disease associations (from GenCC):

• intellectual disability

  Inheritance: AR Classification: LIMITED Submitted by: Ambry Genetics

ENSG00000296707 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.75).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.601 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
TSPAN18	NM_130783.5	c.-152-38745A>C		intron_variant	Intron 2 of 9	ENST00000520358.7	NP_570139.3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
TSPAN18	ENST00000520358.7	c.-152-38745A>C		intron_variant	Intron 2 of 9	5	NM_130783.5	ENSP00000429993.2

Frequencies

GnomAD3 genomes AF: 0.0533 AC: 8101 AN: 152066 Hom.: 1459 Cov.: 32

Gnomad AFR AF: 0.0149

Gnomad AMI AF: 0.00329

Gnomad AMR AF: 0.200

Gnomad ASJ AF: 0.0101

Gnomad EAS AF: 0.618

Gnomad SAS AF: 0.0577

Gnomad FIN AF: 0.0231

Gnomad MID AF: 0.0158

Gnomad NFE AF: 0.00798

Gnomad OTH AF: 0.0626

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

GnomAD4 genome AF: 0.0534 AC: 8122 AN: 152184 Hom.: 1467 Cov.: 32 AF XY: 0.0603 AC XY: 4487 AN XY: 74380

African (AFR) AF: 0.0149 AC: 619 AN: 41528

American (AMR) AF: 0.201 AC: 3069 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.0101 AC: 35 AN: 3472

East Asian (EAS) AF: 0.619 AC: 3195 AN: 5162

South Asian (SAS) AF: 0.0569 AC: 274 AN: 4818

European-Finnish (FIN) AF: 0.0231 AC: 244 AN: 10584

Middle Eastern (MID) AF: 0.0170 AC: 5 AN: 294

European-Non Finnish (NFE) AF: 0.00798 AC: 543 AN: 68012

Other (OTH) AF: 0.0638 AC: 135 AN: 2116

Alfa AF: 0.0259 Hom.: 1443

Bravo AF: 0.0694

Asia WGS AF: 0.304 AC: 1053 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.75
CADD	Benign	2.5
DANN	Benign	0.89
PhyloP100		-0.051
Mutation Taster		=100/0	polymorphism (auto)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Other links and lift over

dbSNP: rs11038167; hg19: chr11-44843134;