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NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs) AND Cutis laxa with osteodystrophy

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Dec 30, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000020684.5

Allele description [Variation Report for NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs)]

NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs)

Genes:
ATP6V0A2:ATPase H+ transporting V0 subunit a2 [Gene - OMIM - HGNC]
LOC126861666:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124232793-124233992 [Gene]
Variant type:
Deletion
Cytogenetic location:
12q24.31
Genomic location:
Preferred name:
NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs)
HGVS:
  • NC_000012.12:g.123748779del
  • NG_012743.1:g.41462del
  • NM_012463.4:c.1929delMANE SELECT
  • NP_036595.2:p.Gln645fs
  • NC_000012.11:g.124233326del
  • NM_012463.2:c.1929delA
Protein change:
Q645fs
Links:
dbSNP: rs80356756
NCBI 1000 Genomes Browser:
rs80356756
Molecular consequence:
  • NM_012463.4:c.1929del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cutis laxa with osteodystrophy (ARCL2A)
Synonyms:
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; CUTIS LAXA WITH BONE DYSTROPHY; CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAY; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018163; MedGen: C0268355; OMIM: 219200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000041231GeneReviews
no classification provided
not providedunknownliterature only

PubMed (2)
[See all records that cite these PMIDs]

SCV000891479Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
no assertion criteria provided
Likely pathogenic
(Dec 30, 2017) 		unknowncuration

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedcuration
not providedunknownnot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

ATP6V0A2-Related Cutis Laxa.

Van Maldergem L, Dobyns W, Kornak U.

2009 Mar 19 [updated 2023 Mar 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]
PMID:
20301755

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F; ARCL Debré-type Study Group., Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S.

Nat Genet. 2008 Jan;40(1):32-4. Epub 2007 Dec 23.

PubMed [citation]
PMID:
18157129

Details of each submission

From GeneReviews, SCV000041231.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

From Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University, SCV000891479.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 3, 2023