U.S. flag

An official website of the United States government

NM_000093.5(COL5A1):c.5348G>A (p.Arg1783His) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 20, 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:
RCV004024586.1

Allele description [Variation Report for NM_000093.5(COL5A1):c.5348G>A (p.Arg1783His)]

NM_000093.5(COL5A1):c.5348G>A (p.Arg1783His)

Genes:
COL5A1:collagen type V alpha 1 chain [Gene - OMIM - HGNC]
LOC101448202:uncharacterized LOC101448202 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_000093.5(COL5A1):c.5348G>A (p.Arg1783His)
HGVS:
  • NC_000009.12:g.134835182G>A
  • NG_008030.1:g.198377G>A
  • NM_000093.5:c.5348G>AMANE SELECT
  • NM_001278074.1:c.5348G>A
  • NP_000084.3:p.Arg1783His
  • NP_000084.3:p.Arg1783His
  • NP_001265003.1:p.Arg1783His
  • LRG_737t1:c.5348G>A
  • LRG_737t2:c.5348G>A
  • LRG_737:g.198377G>A
  • LRG_737p1:p.Arg1783His
  • LRG_737p2:p.Arg1783His
  • NC_000009.11:g.137727028G>A
  • NM_000093.3:c.5348G>A
  • NM_000093.4:c.5348G>A
Protein change:
R1783H
Links:
dbSNP: rs777045810
NCBI 1000 Genomes Browser:
rs777045810
Molecular consequence:
  • NM_000093.5:c.5348G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278074.1:c.5348G>A - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005032235Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 20, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005032235.1

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

Description

The p.R1783H variant (also known as c.5348G>A), located in coding exon 65 of the COL5A1 gene, results from a G to A substitution at nucleotide position 5348. The arginine at codon 1783 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024