NM_033380.3(COL4A5):c.2060G>A (p.Gly687Glu) AND Alport syndrome 1, X-linked recessive

delete

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:: RCV000021362.2

Allele description

NM_033380.3(COL4A5):c.2060G>A (p.Gly687Glu)

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.2060G>A (p.Gly687Glu)

HGVS:

NC_000023.11:g.108601903G>A
NG_011977.1:g.166980G>A
NG_011977.2:g.166980G>A
NM_000495.5:c.2060G>A
NM_033380.3:c.2060G>AMANE SELECT
NP_000486.1:p.Gly687Glu
NP_203699.1:p.Gly687Glu
LRG_232t1:c.2060G>A
LRG_232t2:c.2060G>A
LRG_232:g.166980G>A
LRG_232p1:p.Gly687Glu
LRG_232p2:p.Gly687Glu
NC_000023.10:g.107845133G>A
NM_000495.3:c.2060G>A
P29400:p.Gly687Glu

Nucleotide change:

2262G>A

Protein change:

G687E

Links:

UniProtKB: P29400#VAR_008001; dbSNP: rs104886168

NCBI 1000 Genomes Browser:

rs104886168

Molecular consequence:

NM_000495.5:c.2060G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_033380.3:c.2060G>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000042028	Research and Development, ARUP Laboratories	no assertion criteria provided	Pathogenic (Dec 4, 2012)	not provided	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000042028

Research and Development, ARUP Laboratories

no assertion criteria provided

Pathogenic
(Dec 4, 2012)

not provided

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Detection of mutations in COL4A5 in patients with Alport syndrome.

Plant KE, Green PM, Vetrie D, Flinter FA.

Hum Mutat. 1999;13(2):124-32.

PubMed [citation]

PMID:: 10094548

Details of each submission

From Research and Development, ARUP Laboratories, SCV000042028.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

Converted during submission to Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 13, 2021

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