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NM_012463.4(ATP6V0A2):c.2356_2362del (p.Gly786fs)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jan 29, 2013)
Last evaluated:
Nov 1, 2012
Accession:
VCV000039452.1
Variation ID:
39452
Description:
7bp deletion
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NM_012463.4(ATP6V0A2):c.2356_2362del (p.Gly786fs)

Allele ID
48051
Variant type
Deletion
Variant length
7 bp
Cytogenetic location
12q24.31
Genomic location
12: 123756876-123756882 (GRCh38) GRCh38 UCSC
12: 124241423-124241429 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.124241424_124241430del
NC_000012.12:g.123756877_123756883del
NM_012463.4:c.2356_2362del MANE Select NP_036595.2:p.Gly786fs frameshift
NG_012743.1:g.49560_49566del
Protein change
G786fs
Other names
-
Canonical SPDI
NC_000012.12:123756875:TGGCGTCT:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 611716.0004
dbSNP: rs1566294545
VarSome
Comment on variant
ClinGen staff contributed the HGVS expression for this variant.
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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 Nov 1, 2012 RCV000032647.3
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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
(Nov 01, 2012)
no assertion criteria provided
Method: literature only
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA
Allele origin: germline
OMIM
Accession: SCV000056410.2
Submitted: (Jan 29, 2013)
Evidence details
Publications
PubMed (1)

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
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Fischer B Human genetics 2012 PMID: 22773132

Text-mined citations for rs1566294545...

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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 Apr 08, 2021