NM_003560.4(PLA2G6):c.929T>A (p.Val310Glu) AND Infantile neuroaxonal dystrophy

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:: RCV000006574.3

Allele description [Variation Report for NM_003560.4(PLA2G6):c.929T>A (p.Val310Glu)]

NM_003560.4(PLA2G6):c.929T>A (p.Val310Glu)

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.929T>A (p.Val310Glu)

Other names:

NM_003560.4(PLA2G6):c.929T>A

HGVS:

NC_000022.11:g.38132979A>T
NG_007094.3:g.86800T>A
NM_001004426.3:c.929T>A
NM_001199562.3:c.929T>A
NM_001349864.2:c.929T>A
NM_001349865.2:c.929T>A
NM_001349866.2:c.929T>A
NM_001349867.2:c.395T>A
NM_001349868.2:c.251T>A
NM_001349869.2:c.395T>A
NM_003560.4:c.929T>AMANE SELECT
NP_001004426.1:p.Val310Glu
NP_001186491.1:p.Val310Glu
NP_001336793.1:p.Val310Glu
NP_001336794.1:p.Val310Glu
NP_001336795.1:p.Val310Glu
NP_001336796.1:p.Val132Glu
NP_001336797.1:p.Val84Glu
NP_001336798.1:p.Val132Glu
NP_003551.2:p.Val310Glu
LRG_1015t1:c.929T>A
LRG_1015:g.86800T>A
LRG_1015p1:p.Val310Glu
NC_000022.10:g.38528986A>T
NG_007094.2:g.77712T>A
O60733:p.Val310Glu

Protein change:

V132E; VAL310GLU

Links:

UniProtKB: O60733#VAR_029371; OMIM: 603604.0003; dbSNP: rs121908682

NCBI 1000 Genomes Browser:

rs121908682

Molecular consequence:

NM_001004426.3:c.929T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001199562.3:c.929T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349864.2:c.929T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349865.2:c.929T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349866.2:c.929T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349867.2:c.395T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349868.2:c.251T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349869.2:c.395T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003560.4:c.929T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Infantile neuroaxonal dystrophy (NBIA2A)
Synonyms:: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; Seitelberger disease; Infantile neuroaxonal dystrophy 1
Identifiers:: MONDO: MONDO:0024457; MedGen: C0270724; Orphanet: 35069; OMIM: 256600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026757	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 2006)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000026757

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 2006)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature 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, SCV000026757.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a case of classic infantile neuroaxonal dystrophy (NBIA2A; 256600), Morgan et al. (2006) described a 929T-A transversion in exon 7 of the PLA2G6 gene, predicted to result in a val310-to-glu (V310E) amino acid change in the protein. The mutation was present in homozygous state.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 26, 2024

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