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NM_012463.4(ATP6V0A2):c.1401C>G (p.Ile467Met)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 17, 2017)
Last evaluated:
Jan 6, 2017
Accession:
VCV000446884.1
Variation ID:
446884
Description:
single nucleotide variant
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NM_012463.4(ATP6V0A2):c.1401C>G (p.Ile467Met)

Allele ID
441533
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.31
Genomic location
12: 123744671 (GRCh38) GRCh38 UCSC
12: 124229218 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.124229218C>G
NC_000012.12:g.123744671C>G
NM_012463.4:c.1401C>G MANE Select NP_036595.2:p.Ile467Met missense
NG_012743.1:g.37354C>G
Protein change
I467M
Other names
-
Canonical SPDI
NC_000012.12:123744670:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA387157586
dbSNP: rs1555298476
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 Jan 6, 2017 RCV000518196.1
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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
(Jan 06, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000612467.1
Submitted: (Aug 17, 2017)
Evidence details

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 rs1555298476...

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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 27, 2019