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NM_000089.4(COL1A2):c.293dup (p.Pro98_Arg99insTer) AND Ehlers-Danlos syndrome, cardiac valvular type

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2006
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:
RCV000018821.32

Allele description [Variation Report for NM_000089.4(COL1A2):c.293dup (p.Pro98_Arg99insTer)]

NM_000089.4(COL1A2):c.293dup (p.Pro98_Arg99insTer)

Gene:
COL1A2:collagen type I alpha 2 chain [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
7q21.3
Genomic location:
Preferred name:
NM_000089.4(COL1A2):c.293dup (p.Pro98_Arg99insTer)
HGVS:
  • NC_000007.14:g.94404569dup
  • NG_007405.1:g.15009dup
  • NM_000089.4:c.293dupMANE SELECT
  • NP_000080.2:p.Pro98_Arg99insTer
  • NP_000080.2:p.Pro98_Arg99insTer
  • LRG_2t1:c.293dup
  • LRG_2:g.15009dup
  • LRG_2p1:p.Pro98_Arg99insTer
  • NC_000007.13:g.94033881dup
  • NM_000089.3:c.293dup
Note:
NCBI staff reviewed the sequence information reported in PubMed 16816023 Fig. 4 to determine the location of this allele on the current reference sequence.
Links:
OMIM: 120160.0052; dbSNP: rs797044459
NCBI 1000 Genomes Browser:
rs797044459
Molecular consequence:
  • NM_000089.4:c.293dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Ehlers-Danlos syndrome, cardiac valvular type
Synonyms:
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
Identifiers:
MONDO: MONDO:0009159; MedGen: C4303789; Orphanet: 230851; OMIM: 225320

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039104OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 2006) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.

Malfait F, Symoens S, Coucke P, Nunes L, De Almeida S, De Paepe A.

J Med Genet. 2006 Jul;43(7):e36.

PubMed [citation]
PMID:
16816023
PMCID:
PMC2564565

Details of each submission

From OMIM, SCV000039104.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 6-year-old male with cardiac valvular type of Ehlers-Danlos syndrome (EDSCV; 225320), who had a clinical phenotype of the hypermobile (arthrochalasis) type of EDS, Malfait et al. (2006) found a total absence of the alpha-2 chain of type I collagen. Molecular studies demonstrated a homozygous insertion of a C (292_293insC) at codon 8 of COL1A2 exon 7. The resulting frameshift introduced a premature termination codon in the next amino acid position. Both first-cousin parents carried the same insertion in heterozygous state. Since some signs of mitral valve bulging were present already in the patient at the age of 6 years, cardiac follow-up by echocardiography was proposed for patients with complete absence of alpha-2 chains of type I collagen.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023