NM_012463.4(ATP6V0A2):c.2356_2362del (p.Gly786fs) AND Cutis laxa with osteodystrophy

Clinical significance:Pathogenic (Last evaluated: Nov 1, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000032647.3

Allele description [Variation Report for NM_012463.4(ATP6V0A2):c.2356_2362del (p.Gly786fs)]

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

Gene:
ATP6V0A2:ATPase H+ transporting V0 subunit a2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q24.31
Genomic location:
Preferred name:
NM_012463.4(ATP6V0A2):c.2356_2362del (p.Gly786fs)
HGVS:
  • NC_000012.12:g.123756877_123756883del
  • NG_012743.1:g.49560_49566del
  • NM_012463.4:c.2356_2362delMANE SELECT
  • NP_036595.2:p.Gly786fs
  • NC_000012.11:g.124241424_124241430del
  • NM_012463.3:c.2356_2362delGGCGTCT
Note:
ClinGen staff contributed the HGVS expression for this variant.
Protein change:
G786fs
Links:
OMIM: 611716.0004; dbSNP: rs1566294545
NCBI 1000 Genomes Browser:
rs1566294545
Molecular consequence:
  • NM_012463.4:c.2356_2362del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cutis laxa with osteodystrophy (ARCL2A)
Synonyms:
CUTIS LAXA WITH BONE DYSTROPHY; CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAY; Cutis laxa with joint laxity and retarded development; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018163; MedGen: C0268355; OMIM: 219200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000056410OMIMno assertion criteria providedPathogenic
(Nov 1, 2012)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.

Fischer B, Dimopoulou A, Egerer J, Gardeitchik T, Kidd A, Jost D, Kayserili H, Alanay Y, Tantcheva-Poor I, Mangold E, Daumer-Haas C, Phadke S, Peirano RI, Heusel J, Desphande C, Gupta N, Nanda A, Felix E, Berry-Kravis E, Kabra M, Wevers RA, van Maldergem L, et al.

Hum Genet. 2012 Nov;131(11):1761-73. doi: 10.1007/s00439-012-1197-8. Epub 2012 Jul 8.

PubMed [citation]
PMID:
22773132

Details of each submission

From OMIM, SCV000056410.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In an Indian patient with autosomal recessive cutis laxa type IIA (ARCL2A; 219200), Fischer et al. (2012) identified homozygosity for a 7-bp deletion in the ATP6V0A2 gene (2355-2361delTGGCGTC) resulting in a frameshift (Tyr785fsTer800).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 12, 2021

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