NM_000090.4(COL3A1):c.907G>A (p.Gly303Arg) AND Ehlers-Danlos syndrome, type 4

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:: RCV000087368.2

Allele description [Variation Report for NM_000090.4(COL3A1):c.907G>A (p.Gly303Arg)]

NM_000090.4(COL3A1):c.907G>A (p.Gly303Arg)

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.907G>A (p.Gly303Arg)

HGVS:

NC_000002.12:g.188991678G>A
NG_007404.1:g.22306G>A
NM_000090.4:c.907G>AMANE SELECT
NP_000081.1:p.Gly303Arg
NP_000081.2:p.Gly303Arg
LRG_3t1:c.907G>A
LRG_3:g.22306G>A
LRG_3p1:p.Gly303Arg
NC_000002.11:g.189856404G>A
NM_000090.3:c.907G>A
P02461:p.Gly303Arg

Links:

UniProtKB: P02461#VAR_001771; dbSNP: rs121912919

NCBI 1000 Genomes Browser:

rs121912919

Molecular consequence:

NM_000090.4:c.907G>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
SCV000120250	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

SCV000120250

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

Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms.

Tromp G, Wu Y, Prockop DJ, Madhatheri SL, Kleinert C, Earley JJ, Zhuang J, Norrgård O, Darling RC, Abbott WM, et al.

J Clin Invest. 1993 Jun;91(6):2539-45.

PubMed [citation]

PMID:: 8514866
PMCID:: PMC443315

Details of each submission

From Collagen Diagnostic Laboratory, University of Washington, SCV000120250.1

#	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	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 13, 2025

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