NM_000495.4(COL4A5):c.1516+1G>A AND Alport syndrome, X-linked recessive

Clinical significance:Pathogenic (Last evaluated: Dec 4, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000021299.1

Allele description [Variation Report for NM_000495.4(COL4A5):c.1516+1G>A]

NM_000495.4(COL4A5):c.1516+1G>A

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_000495.4(COL4A5):c.1516+1G>A
HGVS:
  • NC_000023.11:g.108595602G>A
  • NG_011977.1:g.160679G>A
  • NM_000495.4:c.1516+1G>A
  • NM_033380.2:c.1516+1G>A
  • NP_203699.1:p.?
  • NC_000023.10:g.107838832G>A
  • NM_000495.3:c.1516+1G>A
Links:
dbSNP: rs104886331
NCBI 1000 Genomes Browser:
rs104886331
Molecular consequence:
  • NM_033380.2:c.1516+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Alport syndrome, X-linked recessive (ATS)
Synonyms:
NEPHROPATHY AND DEAFNESS, X-LINKED; Alport Syndrome and Thin Basement Membrane Nephropathy; COL4A5 Alport Syndrome; See all synonyms [MedGen]
Identifiers:
MedGen: C1567742; Orphanet: 63; Orphanet: 88917; OMIM: 301050

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000041965ARUP Institute,ARUP Laboratoriesno assertion criteria providedPathogenic
(Dec 4, 2012)
not providedclinical testing

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

Description

Alport syndrome. RNA studies: Two aberrant mRNA: skipping of exon 22 and skipping of exon 22 with insertion of 44 bp of intron 21.

SCV000041965

Summary from all submissions

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

Citations

PubMed

Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

Nagel M, Nagorka S, Gross O.

Hum Mutat. 2005 Jul;26(1):60.

PubMed [citation]
PMID:
15954103

Details of each submission

From ARUP Institute,ARUP Laboratories, SCV000041965.1

#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: Jul 21, 2018