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NM_000393.5(COL5A2):c.1455+6G>T

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Nov 17, 2021)
Last evaluated:
Nov 4, 2021
Accession:
VCV000195650.6
Variation ID:
195650
Description:
single nucleotide variant
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NM_000393.5(COL5A2):c.1455+6G>T

Allele ID
192811
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q32.2
Genomic location
2: 189066723 (GRCh38) GRCh38 UCSC
2: 189931449 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.189931449C>A
NC_000002.12:g.189066723C>A
NG_011799.2:g.118157G>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:189066722:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00160 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00062
1000 Genomes Project 0.00160
Links
ClinGen: CA201874
dbSNP: rs113512079
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter May 22, 2015 RCV000176263.5
Likely benign 1 criteria provided, single submitter Sep 9, 2020 RCV000634647.4
Likely benign 1 criteria provided, single submitter Nov 4, 2021 RCV001704260.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL5A2 - - GRCh38
GRCh37
986 1030

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(May 22, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000227890.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
http://www.ncbi.nlm.nih.gov/vari…
Likely benign
(Nov 04, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000523514.5
Submitted: (Nov 17, 2021)
Evidence details
Likely benign
(Sep 09, 2020)
criteria provided, single submitter
Method: clinical testing
Ehlers-Danlos syndrome, classic type I
Allele origin: germline
Invitae
Accession: SCV000755981.4
Submitted: (Jan 07, 2021)
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.

Text-mined citations for rs113512079...

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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 Nov 27, 2021