NM_000090.3(COL3A1):c.2645G>A (p.Gly882Asp) AND Ehlers-Danlos syndrome, type 4

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

Germline classification:: Pathogenic (1 submission)
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:: RCV000087583.1

Allele description

NM_000090.3(COL3A1):c.2645G>A (p.Gly882Asp)

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.2645G>A (p.Gly882Asp)

HGVS:

NC_000002.12:g.189003771G>A
NG_007404.1:g.34399G>A
NM_000090.3:c.2645G>A
NP_000081.1:p.Gly882Asp
NP_000081.1:p.Gly882Asp
LRG_3t1:c.2645G>A
LRG_3:g.34399G>A
LRG_3p1:p.Gly882Asp
NC_000002.11:g.189868497G>A
P02461:p.Gly882Asp

Links:

UniProtKB: P02461#VAR_011135; dbSNP: rs587779622

NCBI 1000 Genomes Browser:

rs587779622

Molecular consequence:

NM_000090.3:c.2645G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Ehlers-Danlos syndrome, type 4 (EDSVASC)
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
SCV000120473	Collagen Diagnostic Laboratory,University of Washington	no assertion criteria provided	Pathogenic	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000120473

Collagen Diagnostic Laboratory,University of Washington

no assertion criteria provided

Pathogenic

germline

clinical testing

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	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

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

Details of each submission

From Collagen Diagnostic Laboratory,University of Washington, SCV000120473.1

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

#	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: Sep 26, 2021

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