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NM_000393.5(COL5A2):c.3490G>C (p.Gly1164Arg) AND Ehlers-Danlos syndrome, classic type, 2

Germline classification:
Likely 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:
RCV001089657.1

Allele description [Variation Report for NM_000393.5(COL5A2):c.3490G>C (p.Gly1164Arg)]

NM_000393.5(COL5A2):c.3490G>C (p.Gly1164Arg)

Gene:
COL5A2:collagen type V alpha 2 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q32.2
Genomic location:
Preferred name:
NM_000393.5(COL5A2):c.3490G>C (p.Gly1164Arg)
HGVS:
  • NC_000002.12:g.189042755C>G
  • NG_011799.3:g.187547G>C
  • NM_000393.5:c.3490G>CMANE SELECT
  • NP_000384.2:p.Gly1164Arg
  • LRG_738t1:c.3490G>C
  • LRG_738:g.187547G>C
  • LRG_738p1:p.Gly1164Arg
  • NC_000002.11:g.189907481C>G
  • NG_011799.2:g.142125G>C
Protein change:
G1164R
Links:
dbSNP: rs1685586746
NCBI 1000 Genomes Browser:
rs1685586746
Molecular consequence:
  • NM_000393.5:c.3490G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Ehlers-Danlos syndrome, classic type, 2 (EDSCL2)
Synonyms:
Ehlers-Danlos syndrome, type 2; Ehlers-Danlos syndrome type 2 (formerly)
Identifiers:
MONDO: MONDO:0019568; MedGen: C0268336; Orphanet: 287; Orphanet: 90318; OMIM: 130010

Recent activity

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  • carboxypeptidase N catalytic chain precursor [Homo sapiens]
    carboxypeptidase N catalytic chain precursor [Homo sapiens]
    gi|4503011|ref|NP_001299.1|
    Protein
  • Human DNA sequence from clone RP11-9D14 on chromosome 13, complete sequence
    Human DNA sequence from clone RP11-9D14 on chromosome 13, complete sequence
    gi|12666292|emb|AL445262.7|
    Nucleotide
  • Endoleak
    Endoleak
    Postoperative hemorrhage from an endovascular AORTIC ANEURYSM repaired with endoluminal placement of stent grafts (ENDOVASCULAR ANEURYSM REPAIR). It is associated with pressur...<br/>Year introduced: 2011
    MeSH
  • Coronary Aneurysm
    Coronary Aneurysm
    Abnormal balloon- or sac-like dilatation in the wall of CORONARY VESSELS. Most coronary aneurysms are due to CORONARY ATHEROSCLEROSIS, and the rest are due to inflammatory dis...<br/>Year introduced: 1987
    MeSH

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001193452Institute of Human Genetics, Cologne University
no assertion criteria provided
Likely pathogenicpaternalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes31not providednot providednot providedclinical testing

Details of each submission

From Institute of Human Genetics, Cologne University, SCV001193452.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot provided3not provided1not provided

Last Updated: Aug 5, 2023