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_012463.3(ATP6V0A2):c.-227A>G

Help
Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Apr 12, 2019)
Last evaluated:
Jun 16, 2018
Accession:
VCV000307572.3
Variation ID:
307572
Description:
single nucleotide variant
Help

NM_012463.3(ATP6V0A2):c.-227A>G

Allele ID
331041
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.31
Genomic location
12: 123712339 (GRCh38) GRCh38 UCSC
12: 124196886 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.124196886A>G
NC_000012.12:g.123712339A>G
NG_012743.1:g.5022A>G
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:123712338:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.01298 (G)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.01028
The Genome Aggregation Database (gnomAD) 0.00832
1000 Genomes Project 0.01298
Links
ClinGen: CA10641279
dbSNP: rs561163813
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000383636.2
Likely benign 1 criteria provided, single submitter Jun 16, 2018 RCV000838619.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ATP6V0A2 - - GRCh38
GRCh37
363 397

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
Cutis Laxa, Recessive
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000376907.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 16, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000980493.1
Submitted: (Apr 12, 2019)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)

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.

Citations for this variant

Help
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs561163813...

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 Sep 29, 2021