NM_000495.4(COL4A5):c.647G>T (p.Gly216Val) 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:
RCV000021186.1

Allele description [Variation Report for NM_000495.4(COL4A5):c.647G>T (p.Gly216Val)]

NM_000495.4(COL4A5):c.647G>T (p.Gly216Val)

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.647G>T (p.Gly216Val)
HGVS:
  • NC_000023.11:g.108578079G>T
  • NG_011977.1:g.143156G>T
  • NM_000495.4:c.647G>T
  • NM_033380.2:c.647G>T
  • NP_000486.1:p.Gly216Val
  • NP_203699.1:p.Gly216Val
  • NC_000023.10:g.107821309G>T
  • NM_000495.3:c.647G>T
Protein change:
G216V
Links:
dbSNP: rs104886074
NCBI 1000 Genomes Browser:
rs104886074
Molecular consequence:
  • NM_000495.4:c.647G>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000041852ARUP Institute,ARUP Laboratoriesno assertion criteria providedPathogenic
(Dec 4, 2012)
not providedclinical testing

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

Description

Alport syndrome

SCV000041852

Summary from all submissions

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

Citations

PubMed

Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.

Tazón-Vega B, Ars E, Burset M, Santín S, Ruíz P, Fernández-Llama P, Ballarín J, Torra R.

Am J Kidney Dis. 2007 Aug;50(2):257.e1-14.

PubMed [citation]
PMID:
17660027

Details of each submission

From ARUP Institute,ARUP Laboratories, SCV000041852.1

#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