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NM_001845.6(COL4A1):c.4098C>T (p.Gly1366=)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 19, 2018)
Last evaluated:
Sep 15, 2015
Accession:
VCV000282954.1
Variation ID:
282954
Description:
single nucleotide variant
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NM_001845.6(COL4A1):c.4098C>T (p.Gly1366=)

Allele ID
267191
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q34
Genomic location
13: 110164914 (GRCh38) GRCh38 UCSC
13: 110817261 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.110817261G>A
NC_000013.11:g.110164914G>A
NM_001845.6:c.4098C>T NP_001836.3:p.Gly1366= synonymous
NG_011544.2:g.147236C>T
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00019
Trans-Omics for Precision Medicine (TOPMed) 0.00009
Links
ClinGen: CA7047019
dbSNP: rs757948524
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Sep 15, 2015 RCV000335844.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL4A1 - - GRCh38
GRCh37
310 413

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 15, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000334710.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...

Citations for this variant

Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=COL4A1 - - - -

Record last updated Nov 01, 2019