NM_000090.3(COL3A1):c.3472G>C (p.Gly1158Arg) AND Ehlers-Danlos syndrome, type 4

Clinical significance:Pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000087723.2

Allele description [Variation Report for NM_000090.3(COL3A1):c.3472G>C (p.Gly1158Arg)]

NM_000090.3(COL3A1):c.3472G>C (p.Gly1158Arg)

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_000090.3(COL3A1):c.3472G>C (p.Gly1158Arg)
HGVS:
  • NC_000002.12:g.189008089G>C
  • NG_007404.1:g.38717G>C
  • NM_000090.3:c.3472G>C
  • NP_000081.1:p.Gly1158Arg
  • NP_000081.1:p.Gly1158Arg
  • LRG_3t1:c.3472G>C
  • LRG_3:g.38717G>C
  • LRG_3p1:p.Gly1158Arg
  • NC_000002.11:g.189872815G>C
Links:
dbSNP: rs587779715
NCBI 1000 Genomes Browser:
rs587779715
Molecular consequence:
  • NM_000090.3:c.3472G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Ehlers-Danlos syndrome, type 4 (EDSVASC)
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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000120616Collagen Diagnostic Laboratory,University of Washingtonno assertion criteria providedPathogenicgermlineclinical testing

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, SCV000120616.1

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

Last Updated: Oct 16, 2021

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