NM_000090.4(COL3A1):c.3563G>A (p.Gly1188Glu) AND Ehlers-Danlos syndrome, type 4

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 9, 2000
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:: RCV000018758.30

Allele description [Variation Report for NM_000090.4(COL3A1):c.3563G>A (p.Gly1188Glu)]

NM_000090.4(COL3A1):c.3563G>A (p.Gly1188Glu)

Gene:

COL3A1:collagen type III alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q32.2

Genomic location:

Preferred name:

NM_000090.4(COL3A1):c.3563G>A (p.Gly1188Glu)

Other names:

G1021E

HGVS:

NC_000002.12:g.189008961G>A
NG_007404.1:g.39589G>A
NM_000090.4:c.3563G>AMANE SELECT
NP_000081.1:p.Gly1188Glu
NP_000081.2:p.Gly1188Glu
LRG_3t1:c.3563G>A
LRG_3:g.39589G>A
LRG_3p1:p.Gly1188Glu
NC_000002.11:g.189873687G>A
NM_000090.3:c.3563G>A
P02461:p.Gly1188Glu

Protein change:

GLY1021GLU

Links:

UniProtKB: P02461#VAR_001806; OMIM: 120180.0017; dbSNP: rs112456072

NCBI 1000 Genomes Browser:

rs112456072

Molecular consequence:

NM_000090.4:c.3563G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Ehlers-Danlos syndrome, type 4
Synonyms:: Ehlers-Danlos syndrome vascular type; Ehlers Danlos syndrome, ecchymotic type; Ehlers Danlos syndrome, arterial type; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0017314; MedGen: C0268338; Orphanet: 286; OMIM: 130050

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000039041	OMIM	no assertion criteria provided	Pathogenic (Mar 9, 2000)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 8098182, 10706896
SCV000120596	Collagen Diagnostic Laboratory, University of Washington	no assertion criteria provided	Pathogenic	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 10706896, 9036918

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000039041

OMIM

no assertion criteria provided

Pathogenic
(Mar 9, 2000)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

SCV000120596

Collagen Diagnostic Laboratory, University of Washington

no assertion criteria provided

Pathogenic

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	5	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV.

Narcisi P, Wu Y, Tromp G, Earley JJ, Richards AJ, Pope FM, Kuivaniemi H.

Am J Med Genet. 1993 May 15;46(3):278-83.

PubMed [citation]

PMID:: 8098182

Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.

Pepin M, Schwarze U, Superti-Furga A, Byers PH.

N Engl J Med. 2000 Mar 9;342(10):673-80. Erratum in: N Engl J Med 2001 Feb 1;344(5):392.

PubMed [citation]

PMID:: 10706896

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000039041.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

Narcisi et al. (1993) described a 24-year-old woman with type IV Ehlers-Danlos syndrome (EDSVASC; 130050) and sudden death due to 'massive' aortic dissection arising about 0.5 cm above the aortic ring and extending to the aortic bifurcation. The aneurysm had ruptured through the left lateral wall of the abdominal aorta, producing a large retroperitoneal hemorrhage. The presence of atrophy of all finger pulps with acroosteolysis and loss of the first and second fingernails on the left hand were commented on. Narcisi et al. (1993) found a single base mutation in exon 49 of the COL3A1 gene which caused a gly-to-glu substitution at amino acid residue 1021.

Pepin et al. (2000) found the G1021E mutation in 2 of 135 unrelated EDS IV families.

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

From Collagen Diagnostic Laboratory, University of Washington, SCV000120596.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

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

Last Updated: Jun 2, 2024

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