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NM_000495.5(COL4A5):c.161G>A (p.Gly54Asp)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Dec 27, 2012)
Last evaluated:
Dec 4, 2012
Accession:
VCV000010465.1
Variation ID:
10465
Description:
single nucleotide variant
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NM_000495.5(COL4A5):c.161G>A (p.Gly54Asp)

Allele ID
25504
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq22.3
Genomic location
X: 108559083 (GRCh38) GRCh38 UCSC
X: 107802313 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.107802313G>A
NC_000023.11:g.108559083G>A
NM_000495.5:c.161G>A NP_000486.1:p.Gly54Asp missense
... more HGVS
Protein change
G54D
Other names
363G>A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
UniProtKB: P29400#VAR_001914
OMIM: 303630.0013
dbSNP: rs104886043
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 no assertion criteria provided Dec 4, 2012 RCV000011211.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL4A5 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
977 1145

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 01, 1995)
no assertion criteria provided
Method: literature only
ALPORT SYNDROME 1, X-LINKED
Allele origin: germline
OMIM
Accession: SCV000031438.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Moderate
(Dec 04, 2012)
no assertion criteria provided
Method: clinical testing
Alport syndrome
Allele origin: not provided
Research and Development, ARUP Laboratories
Accession: SCV000041791.1
Submitted: (Dec 27, 2012)
Comment:
Affected individual, Later onset (microhematruria at 22). Originally reported as 362G>A Age at ESRD 40. Reported also in Renieri 1995
Evidence details
Comment:
Converted during submission to Pathogenic.

Citations for this variant

Title Author Journal Year Link
A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome. Turco AE Clinical genetics 1995 PMID: 8825605

Record last updated Aug 29, 2019