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NM_170665.4(ATP2A2):c.137-13_137-12insNNNNNNNNNNNNNNNNNN AND Keratosis follicularis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 1999
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:
RCV000019373.28

Allele description [Variation Report for NM_170665.4(ATP2A2):c.137-13_137-12insNNNNNNNNNNNNNNNNNN]

NM_170665.4(ATP2A2):c.137-13_137-12insNNNNNNNNNNNNNNNNNN

Gene:
ATP2A2:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_170665.4(ATP2A2):c.137-13_137-12insNNNNNNNNNNNNNNNNNN
HGVS:
  • NC_000012.12:g.110282700_110282701insNNNNNNNNNNNNNNNNNN
  • NG_007097.2:g.6074_6075insNNNNNNNNNNNNNNNNNN
  • NG_007097.2:g.6074_6075insN[18]
  • NG_126556.1:g.859_860insNNNNNNNNNNNNNNNNNN
  • NG_126556.2:g.1196_1197insNNNNNNNNNNNNNNNNNN
  • NM_001413013.1:c.137-13_137-12insNNNNNNNNNNNNNNNNNN
  • NM_001413014.1:c.137-13_137-12insNNNNNNNNNNNNNNNNNN
  • NM_001413015.1:c.-239-13_-239-12insNNNNNNNNNNNNNNNNNN
  • NM_001681.4:c.137-13_137-12insNNNNNNNNNNNNNNNNNN
  • NM_170665.4:c.137-13_137-12insNNNNNNNNNNNNNNNNNNMANE SELECT
  • NC_000012.11:g.110720505_110720506insNNNNNNNNNNNNNNNNNN
  • NG_007097.2:g.6074_6075insN[18]
Links:
LOVD 3: ATP2A2_000035; OMIM: 108740.0007; dbSNP: rs2137673961
NCBI 1000 Genomes Browser:
rs2137673961
Molecular consequence:
  • NM_001413013.1:c.137-13_137-12insNNNNNNNNNNNNNNNNNN - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001413014.1:c.137-13_137-12insNNNNNNNNNNNNNNNNNN - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001413015.1:c.-239-13_-239-12insNNNNNNNNNNNNNNNNNN - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001681.4:c.137-13_137-12insNNNNNNNNNNNNNNNNNN - intron variant - [Sequence Ontology: SO:0001627]
  • NM_170665.4:c.137-13_137-12insNNNNNNNNNNNNNNNNNN - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Keratosis follicularis (DAR)
Synonyms:
Darier disease; Darier's disease
Identifiers:
MONDO: MONDO:0007417; MedGen: C0022595; Orphanet: 218; OMIM: 124200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039663OMIM
no assertion criteria provided
Pathogenic
(Sep 1, 1999) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Spectrum of novel ATP2A2 mutations in patients with Darier's disease.

Sakuntabhai A, Burge S, Monk S, Hovnanian A.

Hum Mol Genet. 1999 Sep;8(9):1611-9.

PubMed [citation]
PMID:
10441323

Details of each submission

From OMIM, SCV000039663.2

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

Description

Among a series of 24 novel ATP2A2 mutations in familial and sporadic cases of Darier disease (DAR; 124200), Sakuntabhai et al. (1999) described an 18-bp insertion in intron 2, 12 bp upstream of exon 3. Use of a cryptic splice acceptor site resulted in the addition of amino acid sequence MFLTGK N-terminal to sequence encoded by exon 3.

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

Last Updated: Sep 16, 2024