rs637647

Positions:

• chr18-2881841-T-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_032048.3(EMILIN2):​c.258-3123T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.704 in 152,158 control chromosomes in the GnomAD database, including 38,503 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 0.70 (38503 hom., cov: 34)
• Consequence: EMILIN2 NM_032048.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.169

Genes affected

EMILIN2 (HGNC:19881): (elastin microfibril interfacer 2) Predicted to enable extracellular matrix constituent conferring elasticity. Predicted to be involved in cell adhesion. Located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.768 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
EMILIN2	NM_032048.3	c.258-3123T>C		intron_variant		ENST00000254528.4

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
EMILIN2	ENST00000254528.4	c.258-3123T>C		intron_variant		1	NM_032048.3	P1

Frequencies

GnomAD3 genomes AF: 0.704 AC: 107003 AN: 152040 Hom.: 38480 Cov.: 34

Gnomad AFR AF: 0.631

Gnomad AMI AF: 0.831

Gnomad AMR AF: 0.658

Gnomad ASJ AF: 0.637

Gnomad EAS AF: 0.325

Gnomad SAS AF: 0.718

Gnomad FIN AF: 0.804

Gnomad MID AF: 0.652

Gnomad NFE AF: 0.773

Gnomad OTH AF: 0.670

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

GnomAD4 genome AF: 0.704 AC: 107074 AN: 152158 Hom.: 38503 Cov.: 34 AF XY: 0.701 AC XY: 52156 AN XY: 74394

Gnomad4 AFR AF: 0.631

Gnomad4 AMR AF: 0.659

Gnomad4 ASJ AF: 0.637

Gnomad4 EAS AF: 0.325

Gnomad4 SAS AF: 0.719

Gnomad4 FIN AF: 0.804

Gnomad4 NFE AF: 0.773

Gnomad4 OTH AF: 0.669

Alfa AF: 0.752 Hom.: 86305

Bravo AF: 0.685

Asia WGS AF: 0.505 AC: 1757 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	4.1
DANN	Benign	0.43

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

Publications

LitVar

Other links and lift over

dbSNP: rs637647; hg19: chr18-2881839;