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NM_000090.4(COL3A1):c.582+55_798+320delinsTATGCAAAATCAAAC 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:
RCV000087632.2

Allele description [Variation Report for NM_000090.4(COL3A1):c.582+55_798+320delinsTATGCAAAATCAAAC]

NM_000090.4(COL3A1):c.582+55_798+320delinsTATGCAAAATCAAAC

Gene:
COL3A1:collagen type III alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
2q32.2
Genomic location:
Preferred name:
NM_000090.4(COL3A1):c.582+55_798+320delinsTATGCAAAATCAAAC
HGVS:
  • NC_000002.12:g.188988189_188990680delinsTATGCAAAATCAAAC
  • NG_007404.1:g.18817_21308delinsTATGCAAAATCAAAC
  • NM_000090.4:c.582+55_798+320delinsTATGCAAAATCAAACMANE SELECT
  • NP_000081.1:p.Gly195_Arg266del
  • LRG_3:g.18817_21308delinsTATGCAAAATCAAAC
  • NC_000002.11:g.189852915_189855406delinsTATGCAAAATCAAAC
  • NM_000090.3:c.582+53_c.798+318delinstatgcaaaatcaaac
Molecular consequence:
  • NM_000090.4:c.582+55_798+320delinsTATGCAAAATCAAAC - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_000090.4:c.582+55_798+320delinsTATGCAAAATCAAAC - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000120523Collagen Diagnostic Laboratory, University of Washington
no assertion criteria provided
Pathogenicgermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical 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

Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.

Milewicz DM, Witz AM, Smith AC, Manchester DK, Waldstein G, Byers PH.

Am J Hum Genet. 1993 Jul;53(1):62-70.

PubMed [citation]
PMID:
8317500
PMCID:
PMC1682254

Details of each submission

From Collagen Diagnostic Laboratory, University of Washington, SCV000120523.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 2, 2024