NM_000090.3(COL3A1):c.2914G>A (p.Gly972Ser) 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:
RCV000087735.1

Allele description [Variation Report for NM_000090.3(COL3A1):c.2914G>A (p.Gly972Ser)]

NM_000090.3(COL3A1):c.2914G>A (p.Gly972Ser)

Gene:
COL3A1:collagen, type III, alpha 1 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
2q32.2
Genomic location:
Preferred name:
NM_000090.3(COL3A1):c.2914G>A (p.Gly972Ser)
HGVS:
  • NC_000002.12:g.189004347G>A
  • NG_007404.1:g.34975G>A
  • NM_000090.3:c.2914G>A
  • NP_000081.1:p.Gly972Ser
  • LRG_3t1:c.2914G>A
  • LRG_3:g.34975G>A
  • LRG_3p1:p.Gly972Ser
  • NC_000002.11:g.189869073G>A
Protein change:
G972S
Links:
dbSNP: 587779723
NCBI 1000 Genomes Browser:
rs587779723
Molecular consequence:
  • NM_000090.3:c.2914G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Ehlers-Danlos syndrome, type 4 (EDS4)
Identifiers:
MedGen: C0268338; Orphanet: 286; OMIM: 130050
Age of onset:
Neonatal/infancy
Prevalence:
1-9 / 100 000 286

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000120628Collagen Diagnostic Laboratory,University of Washington Medical Centerno 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 Medical Center, SCV000120628.1

#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: Mar 24, 2015