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NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr) AND COL3A1-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 22, 2024
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:
RCV004537521.2

Allele description [Variation Report for NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr)]

NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr)

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.1165A>T (p.Asn389Tyr)
Other names:
p.N389Y:AAT>TAT
HGVS:
  • NC_000002.12:g.188994053A>T
  • NG_007404.1:g.24681A>T
  • NM_000090.4:c.1165A>TMANE SELECT
  • NP_000081.1:p.Asn389Tyr
  • NP_000081.2:p.Asn389Tyr
  • LRG_3t1:c.1165A>T
  • LRG_3:g.24681A>T
  • LRG_3p1:p.Asn389Tyr
  • NC_000002.11:g.189858779A>T
  • NM_000090.3:c.1165A>T
Protein change:
N389Y
Links:
dbSNP: rs200394946
NCBI 1000 Genomes Browser:
rs200394946
Molecular consequence:
  • NM_000090.4:c.1165A>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
SCV004108469PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Jan 22, 2024) 		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, SCV004108469.3

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

Description

The COL3A1 c.1165A>T variant is predicted to result in the amino acid substitution p.Asn389Tyr. This variant has been reported in an individual with possible classical Ehlers-Danlos syndrome (Supplementary results 2, Group 3 and Supplementary Table 4c, Frank et al 2015. PubMed ID: 25758994). This variant was also reported in a study analyzing the frequency of variants identified in small vessel disease (SVD) associated genes in individuals with younger-onset apparently sporadic SVD stroke (Tan et al. 2019. PubMed ID: 31719132) and in a study of individuals with Chiari malformation type 1 (Reported as rs200394946, Table S5, Urbizu et al. 2021. PubMed ID: 33974636). This variant is reported in 0.021% of alleles in individuals of European (Non-Finnish) 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