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NM_033380.3(COL4A5):c.2732G>A (p.Gly911Glu) AND COL4A5-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 26, 2023
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:
RCV003395444.4

Allele description [Variation Report for NM_033380.3(COL4A5):c.2732G>A (p.Gly911Glu)]

NM_033380.3(COL4A5):c.2732G>A (p.Gly911Glu)

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.2732G>A (p.Gly911Glu)
HGVS:
  • NC_000023.11:g.108621857G>A
  • NG_011977.2:g.186934G>A
  • NM_000495.5:c.2732G>A
  • NM_033380.3:c.2732G>AMANE SELECT
  • NP_000486.1:p.Gly911Glu
  • NP_203699.1:p.Gly911Glu
  • LRG_232t1:c.2732G>A
  • LRG_232t2:c.2732G>A
  • LRG_232:g.186934G>A
  • LRG_232p1:p.Gly911Glu
  • LRG_232p2:p.Gly911Glu
  • NC_000023.10:g.107865087G>A
  • NG_011977.1:g.186934G>A
  • NM_000495.4:c.2732G>A
  • P29400:p.Gly911Glu
Protein change:
G911E
Links:
UniProtKB: P29400#VAR_011260; dbSNP: rs104886363
NCBI 1000 Genomes Browser:
rs104886363
Molecular consequence:
  • NM_000495.5:c.2732G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033380.3:c.2732G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
COL4A5-related disorder
Synonyms:
COL4A5-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004120060PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jun 26, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004120060.1

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

Description

The COL4A5 c.2732G>A variant is predicted to result in the amino acid substitution p.Gly911Glu. This variant was reported in an individual with Alport syndrome and was reported to occur de novo in a female patient with features of a COL4A5-related disorder (Cheong et al. 2000. PubMed ID: 10684360; Yokota et al. 2016. PubMed ID: 27796712). At PreventionGenetics, we have observed the c.2732G>A variant in an individual with kidney disease (internal data). The p.Gly911Glu variant affects a Gly residue of the conserved triple helical domain, where substitutions of the glycine are usually pathogenic (Hudson et al. 1993. PubMed ID: 8253711; https://www.ncbi.nlm.nih.gov/books/NBK21582/). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic.

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

Last Updated: May 12, 2024