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NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile) AND COL3A1-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 8, 2023
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:
RCV004537520.2

Allele description [Variation Report for NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile)]

NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile)

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.560C>T (p.Thr187Ile)
Other names:
p.T187I:ACA>ATA
HGVS:
  • NC_000002.12:g.188988112C>T
  • NG_007404.1:g.18740C>T
  • NM_000090.4:c.560C>TMANE SELECT
  • NP_000081.1:p.Thr187Ile
  • NP_000081.2:p.Thr187Ile
  • LRG_3t1:c.560C>T
  • LRG_3:g.18740C>T
  • LRG_3p1:p.Thr187Ile
  • NC_000002.11:g.189852838C>T
  • NM_000090.3:c.560C>T
Protein change:
T187I
Links:
dbSNP: rs371583734
NCBI 1000 Genomes Browser:
rs371583734
Molecular consequence:
  • NM_000090.4:c.560C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
COL3A1-related disorder
Synonyms:
COL3A1-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004120571PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Dec 8, 2023) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004120571.3

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

Description

The COL3A1 c.560C>T variant is predicted to result in the amino acid substitution p.Thr187Ile. This variant was reported as uncertain significance in an individual with Marfan syndrome (case #164, Wooderchak-Donahue et al. 2015. PubMed ID: 25944730). This variant is reported in 0.036% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Nov 24, 2024