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NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Apr 30, 2013)
Last evaluated:
Sep 23, 2010
Accession:
VCV000021500.4
Variation ID:
21500
Description:
2bp deletion
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NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs)

Allele ID
34352
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
12q24.31
Genomic location
12: 123724712-123724713 (GRCh38) GRCh38 UCSC
12: 124209259-124209260 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.124209259_124209260del
NC_000012.12:g.123724712_123724713del
NG_012743.1:g.17395_17396del
NM_012463.4:c.353_354del MANE Select NP_036595.2:p.Leu118fs frameshift
Protein change
L118fs
Other names
-
Canonical SPDI
NC_000012.12:123724711:TG:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA342138
dbSNP: rs80356752
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Sep 23, 2010 RCV000020689.5
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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
pathologic
(Sep 23, 2010)
no assertion criteria provided
Method: curation
ATP6V0A2-Related Cutis Laxa
Allele origin: not provided
GeneReviews
Accession: SCV000041237.2
Submitted: (Apr 30, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.

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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Title Author Journal Year Link
<i>ATP6V0A2</i>-Related Cutis Laxa Van Maldergem L - 2021 PMID: 20301755
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Kornak U Nature genetics 2008 PMID: 18157129

Text-mined citations for rs80356752...

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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 29, 2021