rs3093035

Variant names:

• chr19-10272297-G-A
• rs3093035
• NM_000201.3:c.67+1071G>A

Variant summary

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

The NM_000201.3(ICAM1):​c.67+1071G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0387 in 152,146 control chromosomes in the GnomAD database, including 177 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 0.039 (177 hom., cov: 32)
• Consequence: ICAM1 NM_000201.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.152
• Publications: 2 publications found

Genes affected

ICAM1 (HGNC:5344): (intercellular adhesion molecule 1) This gene encodes a cell surface glycoprotein which is typically expressed on endothelial cells and cells of the immune system. It binds to integrins of type CD11a / CD18, or CD11b / CD18 and is also exploited by Rhinovirus as a receptor. [provided by RefSeq, Jul 2008]

LIMASI (HGNC:56357): (lncRNA inflammatory and mucous response associated, antisense to ICAM1)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0561 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
ICAM1	NM_000201.3	c.67+1071G>A		intron_variant	Intron 1 of 6	ENST00000264832.8	NP_000192.2
LIMASI	XR_007067137.1	n.131-5503C>T		intron_variant	Intron 1 of 3
LIMASI	XR_007067138.1	n.131-5503C>T		intron_variant	Intron 1 of 3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ICAM1	ENST00000264832.8	c.67+1071G>A		intron_variant	Intron 1 of 6	1	NM_000201.3	ENSP00000264832.2

Frequencies

GnomAD3 genomes AF: 0.0388 AC: 5894 AN: 152028 Hom.: 177 Cov.: 32

Gnomad AFR AF: 0.00881

Gnomad AMI AF: 0.0132

Gnomad AMR AF: 0.0224

Gnomad ASJ AF: 0.0389

Gnomad EAS AF: 0.000193

Gnomad SAS AF: 0.00871

Gnomad FIN AF: 0.0957

Gnomad MID AF: 0.00633

Gnomad NFE AF: 0.0576

Gnomad OTH AF: 0.0315

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

GnomAD4 genome AF: 0.0387 AC: 5893 AN: 152146 Hom.: 177 Cov.: 32 AF XY: 0.0398 AC XY: 2960 AN XY: 74360

African (AFR) AF: 0.00879 AC: 365 AN: 41532

American (AMR) AF: 0.0223 AC: 341 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.0389 AC: 135 AN: 3472

East Asian (EAS) AF: 0.000193 AC: 1 AN: 5168

South Asian (SAS) AF: 0.00872 AC: 42 AN: 4816

European-Finnish (FIN) AF: 0.0957 AC: 1010 AN: 10556

Middle Eastern (MID) AF: 0.00680 AC: 2 AN: 294

European-Non Finnish (NFE) AF: 0.0576 AC: 3919 AN: 68010

Other (OTH) AF: 0.0312 AC: 66 AN: 2114

Alfa AF: 0.0454 Hom.: 80

Bravo AF: 0.0306

Asia WGS AF: 0.00346 AC: 12 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.6
DANN	Benign	0.79
PhyloP100		-0.15
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: rs3093035; hg19: chr19-10382973;