NM_000090.3(COL3A1):c.3103G>T (p.Gly1035Cys) AND Familial aortopathy

Clinical significance:Likely pathogenic (Last evaluated: Nov 6, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000781312.1

Allele description [Variation Report for NM_000090.3(COL3A1):c.3103G>T (p.Gly1035Cys)]

NM_000090.3(COL3A1):c.3103G>T (p.Gly1035Cys)

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.3103G>T (p.Gly1035Cys)
HGVS:
  • NC_000002.12:g.189006354G>T
  • NG_007404.1:g.36982G>T
  • NM_000090.3:c.3103G>T
  • NP_000081.1:p.Gly1035Cys
  • NP_000081.1:p.Gly1035Cys
  • LRG_3t1:c.3103G>T
  • LRG_3:g.36982G>T
  • LRG_3p1:p.Gly1035Cys
  • NC_000002.11:g.189871080G>T
  • P02461:p.Gly1035Cys
Links:
UniProtKB: P02461#VAR_011148; dbSNP: rs587779704
NCBI 1000 Genomes Browser:
rs587779704
Molecular consequence:
  • NM_000090.3:c.3103G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial aortopathy
Identifiers:
MedGen: CN078214

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000919238Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Likely pathogenic
(Nov 6, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot 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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000919238.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant summary: The COL3A1 c.3103G>T (p.Gly1035Cys) variant involves the alteration of a conserved nucleotide and a critical amino acid. 4/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). This variant is absent in 246170 control chromosomes in gnomAD. This variant was reported in one ED patient and was associated with arterial complications (Pepin_2000). In addition, one clinical diagnostic laboratories classified this variant as pathogenic. Taken together, this variant is classified as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 16, 2021

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