NM_000431.4(MVK):c.1039+2T>C AND Porokeratosis 3, disseminated superficial actinic type

Clinical significance:Pathogenic (Last evaluated: Oct 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:
RCV000032944.18

Allele description [Variation Report for NM_000431.4(MVK):c.1039+2T>C]

NM_000431.4(MVK):c.1039+2T>C

Gene:
MVK:mevalonate kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_000431.4(MVK):c.1039+2T>C
HGVS:
  • NC_000012.12:g.109595183T>C
  • NG_007702.1:g.26489T>C
  • NM_000431.4:c.1039+2T>CMANE SELECT
  • NM_001114185.3:c.1039+2T>C
  • NM_001301182.2:c.883+2T>C
  • LRG_156t1:c.1039+2T>C
  • LRG_156:g.26489T>C
  • NC_000012.11:g.110032988T>C
  • NM_000431.2:c.1039+2T>C
Nucleotide change:
IVS10DS, T-C, +2
Links:
OMIM: 251170.0014; dbSNP: rs398122910
NCBI 1000 Genomes Browser:
rs398122910
Molecular consequence:
  • NM_000431.4:c.1039+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001114185.3:c.1039+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001301182.2:c.883+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Porokeratosis 3, disseminated superficial actinic type (DSAP1)
Synonyms:
Porokeratosis, disseminated superficial actinic 1; POROKERATOSIS 3, MULTIPLE TYPES; POROKERATOSIS 3, MIBELLI TYPE
Identifiers:
MONDO: MONDO:0008293; MedGen: C1867981; OMIM: 175900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000056716OMIMno assertion criteria providedPathogenic
(Oct 1, 2012)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1.

Wu LQ, Yang YF, Zheng D, Deng H, Pan Q, Zhao TL, Cai F, Feng Y, Long ZG, Dai HP, Tang BS, Yang YJ, Deng HX, Xia K, Xia JH.

Br J Dermatol. 2004 May;150(5):999-1004.

PubMed [citation]
PMID:
15149516

Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.

Zhang SQ, Jiang T, Li M, Zhang X, Ren YQ, Wei SC, Sun LD, Cheng H, Li Y, Yin XY, Hu ZM, Wang ZY, Liu Y, Guo BR, Tang HY, Tang XF, Ding YT, Wang JB, Li P, Wu BY, Wang W, Yuan XF, et al.

Nat Genet. 2012 Oct;44(10):1156-60. doi: 10.1038/ng.2409. Epub 2012 Sep 16.

PubMed [citation]
PMID:
22983302

Details of each submission

From OMIM, SCV000056716.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In affected members of 2 unrelated Chinese families with disseminated superficial actinic porokeratosis (POROK3; 175900), one of which was previously reported by Wu et al. (2004), Zhang et al. (2012) identified a heterozygous T-to-C transition in intron 10 of the MVK gene (1039+2T-C), resulting in a frameshift and premature termination (Leu348IlefsTer17). The mutation was not found in 676 control individuals.

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

Last Updated: Oct 7, 2021

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