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NM_000092.4(COL4A4):c.1441G>A (p.Gly481Ser)

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 9, 2020
Accession:
VCV000585525.3
Variation ID:
585525
Description:
single nucleotide variant
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NM_000092.4(COL4A4):c.1441G>A (p.Gly481Ser)

Allele ID
576656
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q36.3
Genomic location
2: 227089886 (GRCh38) GRCh38 UCSC
2: 227954602 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.12:g.227089886C>T
NC_000002.11:g.227954602C>T
NM_000092.4:c.1441G>A NP_000083.3:p.Gly481Ser missense
... more HGVS
Protein change
G481S
Other names
-
Canonical SPDI
NC_000002.12:227089885:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00007
The Genome Aggregation Database (gnomAD), exomes 0.00008
1000 Genomes Project 0.00020
Links
dbSNP: rs181528936
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Oct 9, 2020 RCV000710831.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL4A4 - - GRCh38
GRCh37
1176 1201

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 13, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000841136.2
Submitted: (Sep 25, 2019)
Evidence details
Publications
PubMed (1)
Comment:
The variant disrupts a glycine residue in the canonical Gly-X-Y repeats of the triple helix domain, which are required for stability and structure of this … (more)
Uncertain significance
(Oct 09, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001555249.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces glycine with serine at codon 481 of the COL4A4 protein (p.Gly481Ser). The glycine residue is highly conserved and there is a … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Thin glomerular basement membrane disease: clinical significance of a morphological diagnosis--a collaborative study of the Italian Renal Immunopathology Group. Frascà GM Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2005 PMID: 15618242

Text-mined citations for rs181528936...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 18, 2021