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NM_000092.4(COL4A4):c.190C>T (p.Arg64Trp)

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 20, 2017)
Last evaluated:
Dec 1, 2017
Accession:
VCV000522547.1
Variation ID:
522547
Description:
single nucleotide variant
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NM_000092.4(COL4A4):c.190C>T (p.Arg64Trp)

Allele ID
513038
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q36.3
Genomic location
2: 227140163 (GRCh38) GRCh38 UCSC
2: 228004879 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.228004879G>A
NC_000002.12:g.227140163G>A
NM_000092.4:c.190C>T NP_000083.3:p.Arg64Trp missense
... more HGVS
Protein change
R64W
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00004
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00010
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA2145770
dbSNP: rs200668675
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 no assertion criteria provided Dec 1, 2017 RCV000625690.1
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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
511 532

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 01, 2017)
no assertion criteria provided
Method: clinical testing
Alport syndrome 3, autosomal dominant
Allele origin: germline
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare
Accession: SCV000746194.1
Submitted: (Dec 20, 2017)
Evidence details

Citations for this variant

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 Jan 14, 2020