NM_033380.3(COL4A5):c.431G>A (p.Gly144Asp) 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:: RCV000021148.1

Allele description

NM_033380.3(COL4A5):c.431G>A (p.Gly144Asp)

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.431G>A (p.Gly144Asp)

HGVS:

NC_000023.11:g.108571459G>A
NG_011977.1:g.136536G>A
NG_011977.2:g.136536G>A
NM_000495.5:c.431G>A
NM_033380.3:c.431G>AMANE SELECT
NP_000486.1:p.Gly144Asp
NP_203699.1:p.Gly144Asp
LRG_232t1:c.431G>A
LRG_232t2:c.431G>A
LRG_232:g.136536G>A
LRG_232p1:p.Gly144Asp
LRG_232p2:p.Gly144Asp
NC_000023.10:g.107814689G>A
NM_000495.3:c.431G>A

Protein change:

G144D

Links:

dbSNP: rs281874737

NCBI 1000 Genomes Browser:

rs281874737

Molecular consequence:

NM_000495.5:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_033380.3:c.431G>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
SCV000041814	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

SCV000041814

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

Genotype-phenotype correlation in X-linked Alport syndrome.

Bekheirnia MR, Reed B, Gregory MC, McFann K, Shamshirsaz AA, Masoumi A, Schrier RW.

J Am Soc Nephrol. 2010 May;21(5):876-83. doi: 10.1681/ASN.2009070784. Epub 2010 Apr 8.

PubMed [citation]

PMID:: 20378821
PMCID:: PMC2865738

Details of each submission

From Research and Development, ARUP Laboratories, SCV000041814.1

#	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: Sep 26, 2021

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