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NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 2, 2024
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:
RCV002315560.11

Allele description [Variation Report for NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala)]

NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala)

Gene:
COL5A1:collagen type V alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala)
Other names:
p.P435A:CCG>GCG
HGVS:
  • NC_000009.12:g.134731634C>G
  • NG_008030.1:g.94829C>G
  • NM_000093.5:c.1303C>GMANE SELECT
  • NM_001278074.1:c.1303C>G
  • NP_000084.3:p.Pro435Ala
  • NP_000084.3:p.Pro435Ala
  • NP_001265003.1:p.Pro435Ala
  • LRG_737t1:c.1303C>G
  • LRG_737t2:c.1303C>G
  • LRG_737:g.94829C>G
  • LRG_737p1:p.Pro435Ala
  • LRG_737p2:p.Pro435Ala
  • NC_000009.11:g.137623480C>G
  • NM_000093.3:c.1303C>G
  • NM_000093.4:c.1303C>G
Protein change:
P435A
Links:
dbSNP: rs377488010
NCBI 1000 Genomes Browser:
rs377488010
Molecular consequence:
  • NM_000093.5:c.1303C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278074.1:c.1303C>G - missense variant - [Sequence Ontology: SO:0001583]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000738624Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 2, 2024) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia.

Richer J, Hill HL, Wang Y, Yang ML, Hunker KL, Lane J, Blackburn S, Coleman DM, Eliason J, Sillon G, D'Agostino MD, Jetty P, Mongeon FP, Laberge AM, Ryan SE, Fendrikova-Mahlay N, Coutinho T, Mathis MR, Zawistowski M, Hazen SL, Katz AE, Gornik HL, et al.

Arterioscler Thromb Vasc Biol. 2020 Nov;40(11):2686-2699. doi: 10.1161/ATVBAHA.119.313885. Epub 2020 Sep 17.

PubMed [citation]
PMID:
32938213
PMCID:
PMC7953329

Details of each submission

From Ambry Genetics, SCV000738624.6

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

Description

The p.P435A variant (also known as c.1303C>G), located in coding exon 8 of the COL5A1 gene, results from a C to G substitution at nucleotide position 1303. The proline at codon 435 is replaced by alanine, an amino acid with highly similar properties. This alteration has been reported in a fibromuscular dysplasia cohort (Richer J et al. Arterioscler Thromb Vasc Biol, 2020 11;40:2686-2699). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024