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NM_012463.4(ATP6V0A2):c.1069A>T (p.Met357Leu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Sep 26, 2021)
Last evaluated:
Feb 24, 2021
Accession:
VCV000432720.4
Variation ID:
432720
Description:
single nucleotide variant
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NM_012463.4(ATP6V0A2):c.1069A>T (p.Met357Leu)

Allele ID
425957
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.31
Genomic location
12: 123743815 (GRCh38) GRCh38 UCSC
12: 124228362 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.124228362A>T
NC_000012.12:g.123743815A>T
NG_012743.1:g.36498A>T
NM_012463.4:c.1069A>T MANE Select NP_036595.2:p.Met357Leu missense
Protein change
M357L
Other names
-
Canonical SPDI
NC_000012.12:123743814:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00019
Trans-Omics for Precision Medicine (TOPMed) 0.00076
1000 Genomes Project 0.00120
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00054
The Genome Aggregation Database (gnomAD) 0.00070
Exome Aggregation Consortium (ExAC) 0.00021
Links
ClinGen: CA6861832
dbSNP: rs146967928
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Feb 24, 2021 RCV000498620.4
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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
Likely benign
(Oct 25, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001131919.1
Submitted: (Mar 14, 2019)
Evidence details
Uncertain significance
(Feb 24, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000590475.4
Submitted: (Sep 26, 2021)
Evidence details
Comment:
In silico analysis supports that this missense variant does not alter protein structure/function Has not been previously published as pathogenic or benign to our knowledge … (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 rs146967928...

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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 Sep 26, 2021