Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000393.5(COL5A2):c.2787G>A (p.Ala929=)

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Nov 17, 2021)
Last evaluated:
Nov 4, 2021
Accession:
VCV000197452.8
Variation ID:
197452
Description:
single nucleotide variant
Help

NM_000393.5(COL5A2):c.2787G>A (p.Ala929=)

Allele ID
194613
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q32.2
Genomic location
2: 189051464 (GRCh38) GRCh38 UCSC
2: 189916190 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.189916190C>T
NC_000002.12:g.189051464C>T
NG_011799.2:g.133416G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:189051463:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00140 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
The Genome Aggregation Database (gnomAD) 0.00069
Trans-Omics for Precision Medicine (TOPMed) 0.00070
1000 Genomes Project 0.00140
Exome Aggregation Consortium (ExAC) 0.00030
The Genome Aggregation Database (gnomAD), exomes 0.00023
The Genome Aggregation Database (gnomAD) 0.00045
Trans-Omics for Precision Medicine (TOPMed) 0.00057
Links
ClinGen: CA202897
dbSNP: rs151027388
VarSome
Help

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 RCV000178480.5
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000306151.2
Benign 1 criteria provided, single submitter Sep 24, 2019 RCV000634668.4
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV001143726.1
Likely benign 1 criteria provided, single submitter Nov 4, 2021 RCV001721122.2
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Ehlers-Danlos Syndrome, Type VIIA
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000425634.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(May 22, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000230565.5
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: SCV000523516.6
Submitted: (Nov 17, 2021)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Ehlers-Danlos syndrome classic type 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001304275.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Sep 24, 2019)
criteria provided, single submitter
Method: clinical testing
Ehlers-Danlos syndrome, classic type I
Allele origin: germline
Invitae
Accession: SCV000756002.4
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

Help
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 rs151027388...

Help
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