NM_000090.3(COL3A1):c.547G>A (p.Gly183Ser) AND Ehlers-Danlos syndrome, type 4

This record was updated by the submitter. Please see the current version.

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:: RCV000018768.29

Allele description

NM_000090.3(COL3A1):c.547G>A (p.Gly183Ser)

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_000090.3(COL3A1):c.547G>A (p.Gly183Ser)

HGVS:

NC_000002.12:g.188988099G>A
NG_007404.1:g.18727G>A
NM_000090.3:c.547G>A
NP_000081.1:p.Gly183Ser
LRG_3t1:c.547G>A
LRG_3:g.18727G>A
LRG_3p1:p.Gly183Ser
NC_000002.11:g.189852825G>A
P02461:p.Gly183Ser

Protein change:

G16S; GLY16SER

Links:

UniProtKB: P02461#VAR_011096; OMIM: 120180.0027; dbSNP: rs121912926

NCBI 1000 Genomes Browser:

rs121912926

Molecular consequence:

NM_000090.3:c.547G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Ehlers-Danlos syndrome, type 4 (EDS4)
Synonyms:: Ehlers-Danlos Syndrome Type IV
Identifiers:: MedGen: C0268338; Orphanet: 286; OMIM: 130050

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000039051	OMIM	no assertion criteria provided	Pathogenic (Mar 9, 2000)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000120504	Collagen Diagnostic Laboratory	no assertion criteria provided	Pathogenic	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 10706896, 18043893

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000039051

OMIM

no assertion criteria provided

Pathogenic
(Mar 9, 2000)

germline

literature only

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

SCV000120504

Collagen Diagnostic Laboratory

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	18	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

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

MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV.

Kerwin W, Pepin M, Mitsumori L, Yarnykh V, Schwarze U, Byers P.

Int J Cardiovasc Imaging. 2008 Jun;24(5):519-28. Epub 2007 Nov 28.

PubMed [citation]

PMID:: 18043893

Details of each submission

From OMIM, SCV000039051.2

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

Description

In 7 of 135 unrelated families, Pepin et al. (2000) found a gly16-to-ser mutation in the COL3A1 gene as the cause of type IV EDS (130050).

#	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, SCV000120504.1

#	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: Dec 19, 2017

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