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NM_033380.3(COL4A5):c.2597G>A (p.Gly866Glu) AND X-linked Alport syndrome

Germline classification:
Likely pathogenic (1 submission)
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:
RCV000021420.4

Allele description [Variation Report for NM_033380.3(COL4A5):c.2597G>A (p.Gly866Glu)]

NM_033380.3(COL4A5):c.2597G>A (p.Gly866Glu)

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.2597G>A (p.Gly866Glu)
HGVS:
  • NC_000023.11:g.108620346G>A
  • NG_011977.2:g.185423G>A
  • NM_000495.5:c.2597G>A
  • NM_033380.3:c.2597G>AMANE SELECT
  • NP_000486.1:p.Gly866Glu
  • NP_203699.1:p.Gly866Glu
  • LRG_232t1:c.2597G>A
  • LRG_232t2:c.2597G>A
  • LRG_232:g.185423G>A
  • LRG_232p1:p.Gly866Glu
  • LRG_232p2:p.Gly866Glu
  • NC_000023.10:g.107863576G>A
  • NG_011977.1:g.185423G>A
  • NM_000495.4:c.2597G>A
  • P29400:p.Gly866Glu
Protein change:
G866E
Links:
UniProtKB: P29400#VAR_001952; dbSNP: rs104886188
NCBI 1000 Genomes Browser:
rs104886188
Molecular consequence:
  • NM_000495.5:c.2597G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033380.3:c.2597G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
X-linked Alport syndrome (ATS1)
Synonyms:
NEPHROPATHY AND DEAFNESS, X-LINKED; Alport syndrome 1, X-linked recessive; Alport Syndrome and Thin Basement Membrane Nephropathy
Identifiers:
MONDO: MONDO:0010520; MedGen: C4746986; Orphanet: 63; Orphanet: 88917; OMIM: 301050

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001593042Precision Medicine Center, Zhengzhou University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicgermlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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 Precision Medicine Center, Zhengzhou University, SCV001593042.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

PM1:Located in a mutational hot spot PM2:not found in gnomAD PP2:Missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease PP3:Multiple lines of computational evidence support a deleterious effect on the gene or gene product

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

Last Updated: Aug 5, 2023