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NM_000090.3(COL3A1):c.[=/3426_3452del];[=/3440_3466del] 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:
RCV000087646.3

Alleles description [Variation Report for NM_000090.3(COL3A1):c.[=/3426_3452del];[=/3440_3466del]]

NM_000090.3(COL3A1):c.[=/3426_3452del (p.Gly1143_Asp1151del)

Gene:
COL3A1:collagen type III alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q32.2
Preferred name:
NM_000090.3(COL3A1):c.[=/3426_3452del (p.Gly1143_Asp1151del)
HGVS:
  • NP_000081.1:p.Gly1143_Asp1151del
  • LRG_3t1:c.[=/3426_3452del
  • NM_000090.3:c.[=/3426_3452del
Note:
Mosaic for two separate 27bp deletions in exon 48 in two cell strains of equal proportion
Observations:
1

NM_000090.3(COL3A1):c.[=/3440_3466del (p.Pro1147_Gly1155del)

Gene:
COL3A1:collagen type III alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q32.2
Preferred name:
NM_000090.3(COL3A1):c.[=/3440_3466del (p.Pro1147_Gly1155del)
HGVS:
  • NP_000081.1:p.Pro1147_Gly1155del
  • LRG_3t1:c.[=/3440_3466del
  • NM_000090.3:c.[=/3440_3466del
Note:
Mosaic for two separate 27bp deletions in exon 48 in two cell strains of equal proportion
Links:
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
SCV000120538Collagen Diagnostic Laboratory, University of Washington
no assertion criteria provided
Pathogenicgermlineclinical testing

Schwarze et al 2006 poster

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Collagen Diagnostic Laboratory, University of Washington, SCV000120538.1

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

Last Updated: Jun 2, 2024