NM_000090.4(COL3A1):c.1714C>T (p.Arg572Ter) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 31, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV003528437.1

Allele description [Variation Report for NM_000090.4(COL3A1):c.1714C>T (p.Arg572Ter)]

NM_000090.4(COL3A1):c.1714C>T (p.Arg572Ter)

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.1714C>T (p.Arg572Ter)

HGVS:

NC_000002.12:g.188996449C>T
NG_007404.1:g.27077C>T
NM_000090.4:c.1714C>TMANE SELECT
NP_000081.1:p.Arg572Ter
NP_000081.2:p.Arg572Ter
LRG_3t1:c.1714C>T
LRG_3:g.27077C>T
LRG_3p1:p.Arg572Ter
NC_000002.11:g.189861175C>T
NM_000090.3:c.1714C>T

Protein change:

R572*

Molecular consequence:

NM_000090.4:c.1714C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Familial thoracic aortic aneurysm and aortic dissection (TAAD)
Synonyms:: Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
Identifiers:: MONDO: MONDO:0019625; MedGen: C4707243; Orphanet: 91387; OMIM: PS607086

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004362973	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 31, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 30474650, 31141158, 36977837, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004362973

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 31, 2023)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome.

Legrand A, Devriese M, Dupuis-Girod S, Simian C, Venisse A, Mazzella JM, Auribault K, Adham S, Frank M, Albuisson J, Jeunemaitre X.

Genet Med. 2019 Jul;21(7):1568-1575. doi: 10.1038/s41436-018-0356-2. Epub 2018 Nov 26.

PubMed [citation]

PMID:: 30474650

Electron microscopy in the diagnosis of Ehlers-Danlos syndromes: correlation with clinical and genetic investigations.

Angwin C, Ghali N, Baker D, Brady AF, Pope FM, Vandersteen A, Wagner B, Ferguson DJP, van Dijk FS.

Br J Dermatol. 2020 Mar;182(3):698-707. doi: 10.1111/bjd.18165. Epub 2019 Aug 21.

PubMed [citation]

PMID:: 31141158

See all PubMed Citations (4)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV004362973.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This variant changes 1 nucleotide in exon 24 of the COL3A1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in individuals affected with vascular Ehlers-Danlos syndrome (PMID: 30474650, 31141158, 36977837). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of COL3A1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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