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NM_000091.4(COL4A3):c.3546_3548dup (p.Gly1183dup)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Pathogenic(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 25, 2020
Accession:
VCV000438655.5
Variation ID:
438655
Description:
3bp duplication
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NM_000091.4(COL4A3):c.3546_3548dup (p.Gly1183dup)

Allele ID
432287
Variant type
Duplication
Variant length
3 bp
Cytogenetic location
2q36.3
Genomic location
2: 227295295-227295296 (GRCh38) GRCh38 UCSC
2: 228160011-228160012 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.228160013_228160015dup
NC_000002.12:g.227295297_227295299dup
NM_000091.4:c.3546_3548dup NP_000082.2:p.Gly1183dup
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:227295295:GAGG:GAGGAGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA645509120
dbSNP: rs1175052474
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 Oct 11, 2019 RCV000505632.3
Pathogenic 1 criteria provided, single submitter Jan 1, 2017 RCV000626593.1
Likely pathogenic 1 criteria provided, single submitter Jan 1, 2017 RCV000626594.1
Uncertain significance 2 criteria provided, single submitter Aug 25, 2020 RCV000681705.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL4A3 - - GRCh38
GRCh37
45 1125
MFF-DT - - - GRCh38 - 1062

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 01, 2017)
criteria provided, single submitter
Method: clinical testing
Microalbuminuria
Microscopic hematuria
Proteinuria
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV000747294.1
Submitted: (Dec 08, 2017)
Evidence details
Likely pathogenic
(Jan 01, 2017)
criteria provided, single submitter
Method: clinical testing
Macroscopic hematuria
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV000747295.1
Submitted: (Dec 08, 2017)
Evidence details
Pathogenic
(Oct 11, 2019)
criteria provided, single submitter
Method: clinical testing
Alport syndrome 3, autosomal dominant
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV001369701.2
Submitted: (Nov 24, 2020)
Evidence details
Comment:
This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM1,PM2,PM4.
Uncertain significance
(Aug 25, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001485870.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This variant, c.3546_3548dup, results in the insertion of 1 amino acid(s) to the COL4A3 protein (p.Gly1183dup), but otherwise preserves the integrity of the reading frame. … (more)
Likely pathogenic
(Sep 16, 2018)
no assertion criteria provided
Method: research
not provided
Allele origin: germline
Gharavi Laboratory,Columbia University
Accession: SCV000809157.1
Submitted: (Sep 24, 2018)
Evidence details
Pathogenic
(Oct 31, 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: SCV000599808.2
Submitted: (Mar 06, 2020)
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 rs1175052474...

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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