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NM_033380.3(COL4A5):c.2723G>A (p.Gly908Glu)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 19, 2016)
Last evaluated:
Jan 30, 2015
Accession:
VCV000235662.2
Variation ID:
235662
Description:
single nucleotide variant
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NM_033380.3(COL4A5):c.2723G>A (p.Gly908Glu)

Allele ID
237342
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq22.3
Genomic location
X: 108621848 (GRCh38) GRCh38 UCSC
X: 107865078 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_232:g.186925G>A
LRG_232t1:c.2723G>A LRG_232p1:p.Gly908Glu
LRG_232t2:c.2723G>A LRG_232p2:p.Gly908Glu
... more HGVS
Protein change
G908E
Other names
-
Canonical SPDI
NC_000023.11:108621847:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10581392
dbSNP: rs878853089
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jan 30, 2015 RCV000224889.2
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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
1722 1902

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 30, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000281412.1
Submitted: (May 19, 2016)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs878853089...

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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 Sep 29, 2021