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NM_000091.4(COL4A3):c.2452G>A (p.Gly818Arg)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Aug 5, 2019)
Last evaluated:
Mar 25, 2016
Accession:
VCV000447169.2
Variation ID:
447169
Description:
single nucleotide variant
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NM_000091.4(COL4A3):c.2452G>A (p.Gly818Arg)

Allele ID
440682
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q36.3
Genomic location
2: 227280970 (GRCh38) GRCh38 UCSC
2: 228145686 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.228145686G>A
NC_000002.12:g.227280970G>A
NM_000091.4:c.2452G>A NP_000082.2:p.Gly818Arg missense
... more HGVS
Protein change
G818R
Other names
-
Canonical SPDI
NC_000002.12:227280969:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
dbSNP: rs868002181
ClinGen: CA66598974
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Mar 25, 2016 RCV000517367.1
Pathogenic 1 no assertion criteria provided Jul 7, 2017 RCV000668107.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL4A3 - - GRCh38
GRCh37
45 1096
MFF-DT - - - GRCh38 - 1033

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 25, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000612944.1
Submitted: (Aug 17, 2017)
Evidence details
Publications
PubMed (2)
Likely pathogenic
(Sep 16, 2018)
no assertion criteria provided
Method: research
not provided
Allele origin: germline
Gharavi Laboratory,Columbia University
Accession: SCV000809252.1
Submitted: (Sep 24, 2018)
Evidence details
Pathogenic
(Jul 07, 2017)
no assertion criteria provided
Method: clinical testing
Alport syndrome, autosomal recessive
Allele origin: unknown
Counsyl
Accession: SCV000792658.2
Submitted: (Aug 05, 2019)
Evidence details
Publications
PubMed (2)

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
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis. Gast C Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2016 PMID: 26346198
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. Storey H Journal of the American Society of Nephrology : JASN 2013 PMID: 24052634

Text-mined citations for rs868002181...

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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 Aug 27, 2021