NM_000090.4(COL3A1):c.3212G>T (p.Gly1071Val) AND Ehlers-Danlos syndrome, type 4

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Nov 18, 2013
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:
RCV000087715.5

Allele description [Variation Report for NM_000090.4(COL3A1):c.3212G>T (p.Gly1071Val)]

NM_000090.4(COL3A1):c.3212G>T (p.Gly1071Val)

Gene:
COL3A1:collagen type III alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q32.2
Genomic location:
Preferred name:
NM_000090.4(COL3A1):c.3212G>T (p.Gly1071Val)
HGVS:
  • NC_000002.12:g.189006947G>T
  • NG_007404.1:g.37575G>T
  • NM_000090.4:c.3212G>TMANE SELECT
  • NP_000081.1:p.Gly1071Val
  • NP_000081.2:p.Gly1071Val
  • LRG_3t1:c.3212G>T
  • LRG_3:g.37575G>T
  • LRG_3p1:p.Gly1071Val
  • NC_000002.11:g.189871673G>T
  • NM_000090.3:c.3212G>T
  • P02461:p.Gly1071Val
Links:
UniProtKB: P02461#VAR_001794; dbSNP: rs587779709
NCBI 1000 Genomes Browser:
rs587779709
Molecular consequence:
  • NM_000090.4:c.3212G>T - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000120608Collagen Diagnostic Laboratory, University of Washington
no assertion criteria provided
Pathogenicgermlineclinical testing

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

SCV000188741Blueprint Genetics
no assertion criteria provided
Likely pathogenic
(Nov 18, 2013) 		germlineclinical testing

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

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

Details of each submission

From Collagen Diagnostic Laboratory, University of Washington, SCV000120608.1

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

From Blueprint Genetics, SCV000188741.1

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

Last Updated: Jan 13, 2025