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NM_033380.3(COL4A5):c.1567del (p.Thr523fs) AND Alport syndrome 1, X-linked recessive

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 13, 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:
RCV000021302.1

Allele description

NM_033380.3(COL4A5):c.1567del (p.Thr523fs)

Gene:
COL4A5:collagen type IV alpha 5 chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq22.3
Genomic location:
Preferred name:
NM_033380.3(COL4A5):c.1567del (p.Thr523fs)
HGVS:
  • NC_000023.11:g.108597048del
  • NG_011977.1:g.162125del
  • NG_011977.2:g.162125del
  • NM_000495.5:c.1567del
  • NM_033380.3:c.1567delMANE SELECT
  • NP_000486.1:p.Thr523fs
  • NP_203699.1:p.Thr523fs
  • LRG_232t1:c.1567del
  • LRG_232t2:c.1567del
  • LRG_232:g.162125del
  • LRG_232p1:p.Thr523fs
  • LRG_232p2:p.Thr523fs
  • NC_000023.10:g.107840278del
  • NM_000495.3:c.1566delA
  • NM_000495.4:c.1567del
Nucleotide change:
1768delA
Protein change:
T523fs
Links:
dbSNP: rs104886123
NCBI 1000 Genomes Browser:
rs104886123
Molecular consequence:
  • NM_000495.5:c.1567del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_033380.3:c.1567del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000041968Research and Development, ARUP Laboratories
no assertion criteria provided
Pathogenic
(Apr 13, 2018) 		unknownliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

Renieri A, Bruttini M, Galli L, Zanelli P, Neri T, Rossetti S, Turco A, Heiskari N, Zhou J, Gusmano R, Massella L, Banfi G, Scolari F, Sessa A, Rizzoni G, Tryggvason K, Pignatti PF, Savi M, Ballabio A, De Marchi M.

Am J Hum Genet. 1996 Jun;58(6):1192-204.

PubMed [citation]
PMID:
8651296
PMCID:
PMC1915065

Details of each submission

From Research and Development, ARUP Laboratories, SCV000041968.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2021