NM_016938.5(EFEMP2):c.506G>A (p.Arg169His) AND EFEMP2-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 10, 2023
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV003980005.2

Allele description [Variation Report for NM_016938.5(EFEMP2):c.506G>A (p.Arg169His)]

NM_016938.5(EFEMP2):c.506G>A (p.Arg169His)

Gene:

EFEMP2:EGF containing fibulin extracellular matrix protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.1

Genomic location:

Preferred name:

NM_016938.5(EFEMP2):c.506G>A (p.Arg169His)

HGVS:

NC_000011.10:g.65870222C>T
NG_012304.2:g.7713G>A
NM_016938.5:c.506G>AMANE SELECT
NP_058634.4:p.Arg169His
NC_000011.9:g.65637693C>T
NM_016938.4:c.506G>A
NR_037718.2:n.631G>A

Protein change:

R169H

Links:

dbSNP: rs141310608

NCBI 1000 Genomes Browser:

rs141310608

Molecular consequence:

NM_016938.5:c.506G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_037718.2:n.631G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: EFEMP2-related disorder
Synonyms:: EFEMP2-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004788199	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Uncertain significance (Nov 10, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004788199

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Uncertain significance
(Nov 10, 2023)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004788199.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The EFEMP2 c.506G>A variant is predicted to result in the amino acid substitution p.Arg169His. This variant was reported in the homozygous state individuals with connective tissue disorder, scoliosis, joint dislocations, contractures and muscle disorder (Alfares et al. 2017. PubMed ID: 28454995; Maddirevula et al. 2018. PubMed ID: 29620724; Westra et al. 2019. PubMed ID: 31127727). In at least two cases, parents were from a consanguineous marriage. Functionnal characterization was not preformed. This variant is reported in 0.018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-65637693-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 1, 2025

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