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NM_000091.4(COL4A3):c.3575G>A (p.Gly1192Glu)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: May 9, 2021)
Accession:
VCV000635543.2
Variation ID:
635543
Description:
single nucleotide variant
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NM_000091.4(COL4A3):c.3575G>A (p.Gly1192Glu)

Allele ID
623267
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q36.3
Genomic location
2: 227297683 (GRCh38) GRCh38 UCSC
2: 228162399 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.228162399G>A
NC_000002.12:g.227297683G>A
NM_000091.4:c.3575G>A NP_000082.2:p.Gly1192Glu missense
... more HGVS
Protein change
G1192E
Other names
-
Canonical SPDI
NC_000002.12:227297682:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1574823172
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 - RCV001391172.1
Pathogenic 1 no assertion criteria provided Jan 15, 2019 RCV000787016.1
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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 1170
MFF-DT - - - GRCh38 - 1107

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
criteria provided, single submitter
Method: research
Alport syndrome, autosomal recessive
Allele origin: germline
Precision Medicine Center,Zhengzhou University
Accession: SCV001593070.1
Submitted: (May 09, 2021)
Evidence details
Comment:
PM1:Located in a mutational hot spot PM2:not found in gnomAD PP2:Missense variant in a gene that has a low rate of benign missense variation and … (more)
Pathogenic
(Jan 15, 2019)
no assertion criteria provided
Method: clinical testing
Alport syndrome 3, autosomal dominant
Allele origin: germline
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare
Accession: SCV000925925.1
Submitted: (Mar 13, 2019)
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 rs1574823172...

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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 May 14, 2021