NM_000090.3(COL3A1):c.1106G>T (p.Gly369Val) AND Familial aortopathy

Clinical significance:Likely pathogenic (Last evaluated: Nov 13, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000781311.1

Allele description [Variation Report for NM_000090.3(COL3A1):c.1106G>T (p.Gly369Val)]

NM_000090.3(COL3A1):c.1106G>T (p.Gly369Val)

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.1106G>T (p.Gly369Val)
HGVS:
  • NC_000002.12:g.188993416G>T
  • NG_007404.1:g.24044G>T
  • NM_000090.3:c.1106G>T
  • NP_000081.1:p.Gly369Val
  • LRG_3t1:c.1106G>T
  • LRG_3:g.24044G>T
  • LRG_3p1:p.Gly369Val
  • NC_000002.11:g.189858142G>T
Protein change:
G369V
Links:
dbSNP: rs1057521930
NCBI 1000 Genomes Browser:
rs1057521930
Molecular consequence:
  • NM_000090.3:c.1106G>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
SCV000919237Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Likely pathogenic
(Nov 13, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000919237.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: The COL3A1 c.1106G>T (p.Gly369Val) variant involves the alteration of a conserved nucleotide located in the Collagen triple helix repeat(IPR008160) (InterPro) affecting a critical glycine. 5/5 in silico tools predict a damaging outcome for this variant. This variant is absent in 171136 control chromosomes in gnomAD. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic.

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

Last Updated: Jun 14, 2021

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