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NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 23, 2021)
Last evaluated:
Mar 18, 2020
Accession:
VCV000392359.4
Variation ID:
392359
Description:
single nucleotide variant
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NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg)

Allele ID
372878
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.31
Genomic location
12: 123726279 (GRCh38) GRCh38 UCSC
12: 124210826 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.124210826A>G
NC_000012.12:g.123726279A>G
NG_012743.1:g.18962A>G
NM_012463.4:c.515A>G MANE Select NP_036595.2:p.Lys172Arg missense
Protein change
K172R
Other names
-
Canonical SPDI
NC_000012.12:123726278:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00004
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
Trans-Omics for Precision Medicine (TOPMed) 0.00010
Links
ClinGen: CA6861636
dbSNP: rs142935490
Varsome
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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 Mar 18, 2020 RCV000422153.4
Uncertain significance 1 criteria provided, single submitter Aug 6, 2018 RCV000797679.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ATP6V0A2 - - GRCh38
GRCh37
363 397

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 18, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000535619.5
Submitted: (Sep 23, 2021)
Evidence details
Comment:
Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter … (more)
Uncertain significance
(Aug 06, 2018)
criteria provided, single submitter
Method: clinical testing
ALG9 congenital disorder of glycosylation
Allele origin: germline
Invitae
Accession: SCV000937252.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces lysine with arginine at codon 172 of the ATP6V0A2 protein (p.Lys172Arg). The lysine residue is moderately conserved and there is a … (more)

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.

Citations for this variant

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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 rs142935490...

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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 Oct 08, 2021