NM_000090.3(COL3A1):c.2356G>A (p.Gly786Arg) AND Ehlers-Danlos syndrome, type 4 variant

Clinical significance:Pathogenic (Last evaluated: Oct 28, 2013)

Review status:(1/4)1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000018740.26

Allele description [Variation Report for NM_000090.3(COL3A1):c.2356G>A (p.Gly786Arg)]

Gene:
COL3A1:collagen, type III, alpha 1 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
2q32.2
Genomic location:
Preferred name:
NM_000090.3(COL3A1):c.2356G>A (p.Gly786Arg)
HGVS:
  • NC_000002.12:g.189001554G>A
  • NG_007404.1:g.32182G>A
  • NM_000090.3:c.2356G>A
  • NP_000081.1:p.Gly786Arg
  • LRG_3t1:c.2356G>A
  • LRG_3:g.32182G>A
  • LRG_3p1:p.Gly786Arg
  • NC_000002.11:g.189866280G>A
Protein change:
G619R; GLY619ARG
Links:
OMIM: 120180.0002; dbSNP: 113485686
NCBI 1000 Genomes Browser:
rs113485686
Molecular consequence:
  • NM_000090.3:c.2356G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ehlers-Danlos syndrome, type 4 variant
Synonyms:
EHLERS-DANLOS SYNDROME, TYPE IV, VARIANT
Identifiers:
MedGen: CN071423

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000039023OMIMPathogenic
(Oct 28, 2013)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms.

Kontusaari S, Tromp G, Kuivaniemi H, Romanic AM, Prockop DJ.

J Clin Invest. 1990 Nov;86(5):1465-73.

PubMed [citation]
PMID:
2243125
PMCID:
PMC296891

Genetic causes of aortic aneurysms. Unlearning at least part of what the textbooks say.

Kuivaniemi H, Tromp G, Prockop DJ.

J Clin Invest. 1991 Nov;88(5):1441-4. Review. No abstract available.

PubMed [citation]
PMID:
1939638
PMCID:
PMC295644

Details of each submission

From OMIM, SCV000039023.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a 37-year-old female captain in the U. S. Air Force who was studied because several relatives had died of ruptured aortic aneurysms (see 130050), Kontusaari et al. (1990) found heterozygosity for a single base mutation that converted the codon for glycine-619 in type III procollagen to arginine. The collagen produced had decreased temperature for thermal unfolding. The same mutation was found in DNA extracted from pathologic specimens from her mother, who had died at the age of 34 of aortic aneurysm, and a maternal aunt, who died at the age of 55 of the same cause. DNA from samples of saliva showed that the woman's daughter, son, brother, and an aunt also had the mutation. Kuivaniemi et al. (1991) described the same family in brief. The proband had a tendency to bruise easily, and the surgeon who had previously removed her appendix noted that her tissues seemed friable and bled easily, with the loss of 1 liter of blood during that operation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2014

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