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NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp) AND Karak syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2006
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:
RCV000006576.4

Allele description [Variation Report for NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp)]

NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp)

Gene:
PLA2G6:phospholipase A2 group VI [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.1
Genomic location:
Preferred name:
NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp)
Other names:
NM_003560.4(PLA2G6):c.1894C>T
HGVS:
  • NC_000022.11:g.38115667G>A
  • NG_007094.3:g.104112C>T
  • NG_033059.2:g.3C>T
  • NM_001004426.3:c.1732C>T
  • NM_001199562.3:c.1732C>T
  • NM_001349864.2:c.1894C>T
  • NM_001349865.2:c.1732C>T
  • NM_001349866.2:c.1732C>T
  • NM_001349867.2:c.1360C>T
  • NM_001349868.2:c.1216C>T
  • NM_001349869.2:c.1198C>T
  • NM_003560.4:c.1894C>TMANE SELECT
  • NP_001004426.1:p.Arg578Trp
  • NP_001186491.1:p.Arg578Trp
  • NP_001336793.1:p.Arg632Trp
  • NP_001336794.1:p.Arg578Trp
  • NP_001336795.1:p.Arg578Trp
  • NP_001336796.1:p.Arg454Trp
  • NP_001336797.1:p.Arg406Trp
  • NP_001336798.1:p.Arg400Trp
  • NP_003551.2:p.Arg632Trp
  • LRG_1015t1:c.1894C>T
  • LRG_1015:g.104112C>T
  • LRG_1015p1:p.Arg632Trp
  • NC_000022.10:g.38511674G>A
  • NC_000022.10:g.38511674G>A
  • NG_007094.2:g.95024C>T
  • NM_003560.2:c.1894C>T
  • O60733:p.Arg632Trp
Protein change:
R400W; ARG632TRP
Links:
UniProtKB: O60733#VAR_029373; OMIM: 603604.0005; dbSNP: rs121908683
NCBI 1000 Genomes Browser:
rs121908683
Molecular consequence:
  • NM_001004426.3:c.1732C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199562.3:c.1732C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349864.2:c.1894C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349865.2:c.1732C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349866.2:c.1732C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349867.2:c.1360C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349868.2:c.1216C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349869.2:c.1198C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003560.4:c.1894C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Karak syndrome
Identifiers:
MedGen: C2750220

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000026759OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 2006) 		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

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.

Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S, Rodriguez D, Desguerre I, Mubaidin A, Bertini E, Trembath RC, Simonati A, Schanen C, Johnson CA, Levinson B, Woods CG, et al.

Nat Genet. 2006 Jul;38(7):752-4. Epub 2006 Jun 18. Erratum in: Nat Genet. 2006 Aug;38(8):957.

PubMed [citation]
PMID:
16783378
PMCID:
PMC2117328

Details of each submission

From OMIM, SCV000026759.2

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

Description

In the original family with Karak syndrome (see 610217), Morgan et al. (2006) detected homozygosity for a C-to-T transition at nucleotide 1894 in exon 14 of the PLA2G6 gene that resulted in a substitution of trp for arg at codon 632 (R632W).

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

Last Updated: Oct 20, 2024