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NM_000092.5(COL4A4):c.4603_4604del (p.Gln1535fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jun 1, 2020)
Last evaluated:
May 28, 2020
Accession:
VCV000915852.2
Variation ID:
915852
Description:
2bp deletion
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NM_000092.5(COL4A4):c.4603_4604del (p.Gln1535fs)

Allele ID
904076
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
2q36.3
Genomic location
2: 227008223-227008224 (GRCh38) GRCh38 UCSC
2: 227872939-227872940 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.227872939_227872940del
NC_000002.12:g.227008223_227008224del
NM_000092.5:c.4603_4604del MANE Select NP_000083.3:p.Gln1535fs frameshift
... more HGVS
Protein change
Q1535fs
Other names
-
Canonical SPDI
NC_000002.12:227008222:TG:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter May 28, 2020 RCV001171341.1
Pathogenic 1 criteria provided, single submitter May 27, 2020 RCV001171499.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL4A4 - - GRCh38
GRCh37
1321 1346

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 28, 2020)
criteria provided, single submitter
Method: research
Chronic kidney disease
(Autosomal dominant inheritance)
Allele origin: unknown
Cavalleri Lab, Royal College of Surgeons in Ireland
Accession: SCV001328288.1
Submitted: (May 28, 2020)
Evidence details
Comment:
PVS1, PM2, PP3
Pathogenic
(May 27, 2020)
criteria provided, single submitter
Method: research
Alport syndrome, autosomal recessive
(Autosomal dominant inheritance)
Allele origin: unknown
Cavalleri Lab, Royal College of Surgeons in Ireland
Accession: SCV001305364.1
Submitted: (Jun 01, 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.

Record last updated Feb 12, 2021