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NM_000090.4(COL3A1):c.2186G>A (p.Gly729Glu) 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:
RCV000087676.2

Allele description [Variation Report for NM_000090.4(COL3A1):c.2186G>A (p.Gly729Glu)]

NM_000090.4(COL3A1):c.2186G>A (p.Gly729Glu)

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.2186G>A (p.Gly729Glu)
HGVS:
  • NC_000002.12:g.188999534G>A
  • NG_007404.1:g.30162G>A
  • NM_000090.4:c.2186G>AMANE SELECT
  • NP_000081.1:p.Gly729Glu
  • NP_000081.2:p.Gly729Glu
  • LRG_3t1:c.2186G>A
  • LRG_3:g.30162G>A
  • LRG_3p1:p.Gly729Glu
  • NC_000002.11:g.189864260G>A
  • NM_000090.3:c.2186G>A
Links:
dbSNP: rs587779680
NCBI 1000 Genomes Browser:
rs587779680
Molecular consequence:
  • NM_000090.4:c.2186G>A - 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
SCV000120568Collagen Diagnostic Laboratory, University of Washington
no assertion criteria provided
Pathogenicgermlineclinical testing

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, SCV000120568.1

#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: Jun 2, 2024