NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr) AND Cutis laxa, autosomal recessive, type 1A

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000032274.3

Allele description [Variation Report for NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr)]

NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr)

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.800G>A (p.Cys267Tyr)

HGVS:

NC_000011.10:g.65868557C>T
NG_012304.2:g.9378G>A
NG_053116.1:g.13496C>T
NM_016938.5:c.800G>AMANE SELECT
NP_058634.4:p.Cys267Tyr
NC_000011.9:g.65636028C>T
NM_016938.4:c.800G>A
NR_037718.2:n.925G>A
O95967:p.Cys267Tyr

Protein change:

C267Y; CYS267TYR

Links:

UniProtKB: O95967#VAR_067069; OMIM: 604633.0004; dbSNP: rs193302866

NCBI 1000 Genomes Browser:

rs193302866

Molecular consequence:

NM_016938.5:c.800G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_037718.2:n.925G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Cutis laxa, autosomal recessive, type 1A (ARCL1A)
Synonyms:: Autosomal recessive cutis laxa type IA
Identifiers:: MONDO: MONDO:0009052; MedGen: C5848058; Orphanet: 90349; OMIM: 219100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000055909	GeneReviews	no classification provided	not provided	unknown	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000055909

GeneReviews

no classification provided

not provided

unknown

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

EFEMP2-Related Cutis Laxa.

Loeys B, De Paepe A, Urban Z.

2011 May 12 [updated 2023 Jun 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 21563328

Details of each submission

From GeneReviews, SCV000055909.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

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

Last Updated: Jun 29, 2024

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