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NM_012463.4(ATP6V0A2):c.997G>C (p.Ala333Pro)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 8, 2020
Accession:
VCV001003296.1
Variation ID:
1003296
Description:
single nucleotide variant
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NM_012463.4(ATP6V0A2):c.997G>C (p.Ala333Pro)

Allele ID
994928
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.31
Genomic location
12: 123737230 (GRCh38) GRCh38 UCSC
12: 124221777 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.124221777G>C
NC_000012.12:g.123737230G>C
NG_012743.1:g.29913G>C
NM_012463.4:c.997G>C MANE Select NP_036595.2:p.Ala333Pro missense
Protein change
A333P
Other names
-
Canonical SPDI
NC_000012.12:123737229:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Jul 8, 2020 RCV001299829.1
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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
(Jul 08, 2020)
criteria provided, single submitter
Method: clinical testing
ALG9 congenital disorder of glycosylation
Allele origin: germline
Invitae
Accession: SCV001488941.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces alanine with proline at codon 333 of the ATP6V0A2 protein (p.Ala333Pro). The alanine 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.

Record last updated Oct 08, 2021