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NM_012463.4(ATP6V0A2):c.1118A>G (p.Asn373Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
May 21, 2019
Accession:
VCV000945705.2
Variation ID:
945705
Description:
single nucleotide variant
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NM_012463.4(ATP6V0A2):c.1118A>G (p.Asn373Ser)

Allele ID
926483
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.31
Genomic location
12: 123743864 (GRCh38) GRCh38 UCSC
12: 124228411 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.124228411A>G
NC_000012.12:g.123743864A>G
NG_012743.1:g.36547A>G
NM_012463.4:c.1118A>G MANE Select NP_036595.2:p.Asn373Ser missense
Protein change
N373S
Other names
-
Canonical SPDI
NC_000012.12:123743863:A:G
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 May 21, 2019 RCV001216411.2
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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
(May 21, 2019)
criteria provided, single submitter
Method: clinical testing
ALG9 congenital disorder of glycosylation
Allele origin: germline
Invitae
Accession: SCV001388208.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces asparagine with serine at codon 373 of the ATP6V0A2 protein (p.Asn373Ser). The asparagine residue is highly 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