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NM_033380.3(COL4A5):c.2840G>A (p.Gly947Asp) AND Alport syndrome 1, X-linked recessive

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 4, 2012
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:
RCV000021449.2

Allele description

NM_033380.3(COL4A5):c.2840G>A (p.Gly947Asp)

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.2840G>A (p.Gly947Asp)
HGVS:
  • NC_000023.11:g.108622748G>A
  • NG_011977.1:g.187825G>A
  • NG_011977.2:g.187825G>A
  • NM_000495.5:c.2840G>A
  • NM_033380.3:c.2840G>AMANE SELECT
  • NP_000486.1:p.Gly947Asp
  • NP_203699.1:p.Gly947Asp
  • LRG_232t1:c.2840G>A
  • LRG_232t2:c.2840G>A
  • LRG_232:g.187825G>A
  • LRG_232p1:p.Gly947Asp
  • LRG_232p2:p.Gly947Asp
  • NC_000023.10:g.107865978G>A
  • NM_000495.3:c.2840G>A
  • P29400:p.Gly947Asp
Nucleotide change:
3042 G>A
Protein change:
G947D
Links:
UniProtKB: P29400#VAR_011262; dbSNP: rs104886370
NCBI 1000 Genomes Browser:
rs104886370
Molecular consequence:
  • NM_000495.5:c.2840G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033380.3:c.2840G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Alport syndrome 1, X-linked recessive (ATS1)
Synonyms:
NEPHROPATHY AND DEAFNESS, X-LINKED; Alport Syndrome and Thin Basement Membrane Nephropathy; X-linked Alport syndrome; See all synonyms [MedGen]
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
SCV000042115Research and Development, ARUP Laboratories
no assertion criteria provided
Pathogenic
(Dec 4, 2012) 		not providedclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.

Inoue Y, Nishio H, Shirakawa T, Nakanishi K, Nakamura H, Sumino K, Nishiyama K, Iijima K, Yoshikawa N.

Am J Kidney Dis. 1999 Nov;34(5):854-62.

PubMed [citation]
PMID:
10561141

Details of each submission

From Research and Development, ARUP Laboratories, SCV000042115.1

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

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 13, 2021