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NM_012463.4(ATP6V0A2):c.2246A>G (p.Asn749Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 21, 2016)
Last evaluated:
Dec 6, 2016
Accession:
VCV000373538.1
Variation ID:
373538
Description:
single nucleotide variant
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NM_012463.4(ATP6V0A2):c.2246A>G (p.Asn749Ser)

Allele ID
360027
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.31
Genomic location
12: 123754490 (GRCh38) GRCh38 UCSC
12: 124239037 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.124239037A>G
NC_000012.12:g.123754490A>G
NM_012463.4:c.2246A>G MANE Select NP_036595.2:p.Asn749Ser missense
NG_012743.1:g.47173A>G
Protein change
N749S
Other names
-
Canonical SPDI
NC_000012.12:123754489:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA16042840
dbSNP: rs941238473
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 Dec 6, 2016 RCV000413672.1
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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
(Dec 06, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000492139.1
Submitted: (Dec 21, 2016)
Evidence details
Comment:
A variant of uncertain significance has been identified in the ATP6V0A2 gene. The N749S variant has not been published as a pathogenic variant, nor has … (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 rs941238473...

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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 Feb 27, 2021