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NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) AND Atypical hemolytic-uremic syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 25, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001328145.2

Allele description [Variation Report for NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)]

NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)

Gene:
COL4A5:collagen type IV alpha 5 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq22.3
Genomic location:
Preferred name:
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)
Other names:
p.G869R
HGVS:
  • NC_000023.11:g.108620354G>A
  • NG_011977.2:g.185431G>A
  • NM_000495.5:c.2605G>A
  • NM_033380.3:c.2605G>AMANE SELECT
  • NP_000486.1:p.Gly869Arg
  • NP_203699.1:p.Gly869Arg
  • LRG_232t1:c.2605G>A
  • LRG_232t2:c.2605G>A
  • LRG_232:g.185431G>A
  • LRG_232p1:p.Gly869Arg
  • LRG_232p2:p.Gly869Arg
  • NC_000023.10:g.107863584G>A
  • NG_011977.1:g.185431G>A
  • NM_000495.4:c.2605G>A
  • NM_000495.5:c.2605G>A
  • NM_033380.1:c.2605G>A
  • NM_033380.2:c.2605G>A
  • P29400:p.Gly869Arg
  • p.(Gly869Arg)
Protein change:
G869R
Links:
UniProtKB: P29400#VAR_001953; dbSNP: rs104886189
NCBI 1000 Genomes Browser:
rs104886189
Molecular consequence:
  • NM_000495.5:c.2605G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033380.3:c.2605G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Atypical hemolytic-uremic syndrome
Synonyms:
Atypical HUS
Identifiers:
MONDO: MONDO:0016244; MedGen: C2931788

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001449309Sydney Genome Diagnostics, Children's Hospital Westmead
no assertion criteria provided
Pathogenic
(Oct 25, 2018) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Sydney Genome Diagnostics, Children's Hospital Westmead, SCV001449309.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This patient is hemizygous for the c.2605G>A (p.Gly869Arg) variant in the COL4A5 gene. This variant has been reported to be associated with Alport syndrome (Strasser et al Nephrol Dial Transplant (2012) 27: 4236-4240). In silico analysis (Alamutv2.4) using Align GVGD, PolyPhen2, SIFT and Mutation taster all predict that this variant is likely to be pathogenic. In addition, p.Gly869 is a highly conserved amino acid within the triple helix domain. Glycine residues, in this domain, are important for the steric arrangement of the collagen chains (Knebelmann B et al. Am J Hum Genet 1996; 59: 1221-1232).

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

Last Updated: Sep 29, 2024