U.S. flag

An official website of the United States government

NM_000093.5(COL5A1):c.1209G>T (p.Glu403Asp) AND Brugada syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 16, 2017
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:
RCV000714910.3

Allele description [Variation Report for NM_000093.5(COL5A1):c.1209G>T (p.Glu403Asp)]

NM_000093.5(COL5A1):c.1209G>T (p.Glu403Asp)

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.1209G>T (p.Glu403Asp)
HGVS:
  • NC_000009.12:g.134731540G>T
  • NG_008030.1:g.94735G>T
  • NM_000093.5:c.1209G>TMANE SELECT
  • NM_001278074.1:c.1209G>T
  • NP_000084.3:p.Glu403Asp
  • NP_001265003.1:p.Glu403Asp
  • LRG_737t2:c.1209G>T
  • LRG_737:g.94735G>T
  • LRG_737p2:p.Glu403Asp
  • NC_000009.11:g.137623386G>T
  • NM_000093.3:c.1209G>T
Protein change:
E403D
Links:
dbSNP: rs1564417691
NCBI 1000 Genomes Browser:
rs1564417691
Molecular consequence:
  • NM_000093.5:c.1209G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278074.1:c.1209G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Brugada syndrome
Synonyms:
Sudden unexpected nocturnal death syndrome; Sudden unexplained nocturnal death syndrome; Sudden Unexplained Death Syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015263; MedGen: C1142166; OMIM: PS601144

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
SCV000845665Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub
criteria provided, single submitter

(RBHT-CGGL ClinVar Assertion Criteria)		Uncertain significance
(Oct 16, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub, SCV000845665.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

To the best of our knowledge this variant has not been reported as disease-causing or as a benign polymorphism, and has not been detected in approximately 120,000 individuals in control populations (gnomAD database). Algorithms developed to predict the effect of missense changes on protein structure and function all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. The p.Glu403 amino acid residue is not evolutionary conserved, and p.Asp403 is found in some species; suggesting this change may not be damaging.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 28, 2023