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NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 20, 2016
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:
RCV002315540.10

Allele description [Variation Report for NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val)]

NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val)

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.1637C>T (p.Ala546Val)
Other names:
p.A546V:GCG>GTG
HGVS:
  • NC_000009.12:g.134750857C>T
  • NG_008030.1:g.114052C>T
  • NM_000093.5:c.1637C>TMANE SELECT
  • NM_001278074.1:c.1637C>T
  • NP_000084.3:p.Ala546Val
  • NP_000084.3:p.Ala546Val
  • NP_001265003.1:p.Ala546Val
  • LRG_737t1:c.1637C>T
  • LRG_737t2:c.1637C>T
  • LRG_737:g.114052C>T
  • LRG_737p1:p.Ala546Val
  • LRG_737p2:p.Ala546Val
  • NC_000009.11:g.137642703C>T
  • NM_000093.3:c.1637C>T
  • NM_000093.4:c.1637C>T
Protein change:
A546V
Links:
dbSNP: rs557361751
NCBI 1000 Genomes Browser:
rs557361751
Molecular consequence:
  • NM_000093.5:c.1637C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278074.1:c.1637C>T - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000738593Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 20, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000738593.5

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

Description

The p.A546V variant (also known as c.1637C>T), located in coding exon 13 of the COL5A1 gene, results from a C to T substitution at nucleotide position 1637. The alanine at codon 546 is replaced by valine, an amino acid with similar properties. Based on data from ExAC, the T allele has an overall frequency of approximately 0.003% (4/115096). The highest observed frequency was 0.03% (2/5792) of European (Finnish) alleles (Exome Aggregation Consortium (ExAC), Cambridge, MA (URL: http://exac.broadinstitute.org) [Accessed January 20, 2016]). This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. 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 variant remains unclear.

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

Last Updated: Nov 3, 2024