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NM_012463.4(ATP6V0A2):c.1002del (p.Leu335fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 4, 2021)
Accession:
VCV000996063.1
Variation ID:
996063
Description:
1bp deletion
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NM_012463.4(ATP6V0A2):c.1002del (p.Leu335fs)

Allele ID
983767
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
12q24.31
Genomic location
12: 123737235 (GRCh38) GRCh38 UCSC
12: 124221782 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.124221782del
NC_000012.12:g.123737235del
NM_012463.4:c.1002del MANE Select NP_036595.2:p.Leu335fs frameshift
NG_012743.1:g.29918del
Protein change
L335fs
Other names
-
Canonical SPDI
NC_000012.12:123737234:T:
Functional consequence
loss_of_function_variant [Sequence Ontology SO:0002054]
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
Pathogenic 1 criteria provided, single submitter - RCV001290340.1
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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
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Cutis laxa with osteodystrophy
(Autosomal recessive inheritance)
Allele origin: maternal
Division of Biology and Genetics,University of Brescia
Accession: SCV001478259.1
Submitted: (Feb 04, 2021)
Evidence details
Publications
PubMed (1)

Functional evidence

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Functional consequence Method Result Submitter Supporting information
loss_of_function_variant
Division of Biology and Genetics,University of Brescia
Accession: SCV001478259.1
Submitted: (Feb 04, 2021)
Evidence details
Publications
PubMed (1)

Citations for this variant

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Title Author Journal Year Link
Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing. Ritelli M Journal of dermatological science 2014 PMID: 24815019

Record last updated Apr 08, 2021