NM_003560.4(PLA2G6):c.945_947dup (p.Ala316dup) AND Neurodegeneration with brain iron accumulation 2B

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 8, 2013
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000193975.6

Allele description [Variation Report for NM_003560.4(PLA2G6):c.945_947dup (p.Ala316dup)]

NM_003560.4(PLA2G6):c.945_947dup (p.Ala316dup)

Gene:

PLA2G6:phospholipase A2 group VI [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

22q13.1

Genomic location:

Preferred name:

NM_003560.4(PLA2G6):c.945_947dup (p.Ala316dup)

HGVS:

NC_000022.11:g.38132962_38132964dup
NG_007094.3:g.86816_86818dup
NM_001004426.3:c.945_947dup
NM_001199562.3:c.945_947dup
NM_001349864.2:c.945_947dup
NM_001349865.2:c.945_947dup
NM_001349866.2:c.945_947dup
NM_001349867.2:c.411_413dup
NM_001349868.2:c.267_269dup
NM_001349869.2:c.411_413dup
NM_003560.4:c.945_947dupMANE SELECT
NP_001004426.1:p.Ala316dup
NP_001186491.1:p.Ala316dup
NP_001336793.1:p.Ala316dup
NP_001336794.1:p.Ala316dup
NP_001336795.1:p.Ala316dup
NP_001336796.1:p.Ala138dup
NP_001336797.1:p.Ala90dup
NP_001336798.1:p.Ala138dup
NP_003551.2:p.Ala316dup
LRG_1015t1:c.945_947dup
LRG_1015:g.86816_86818dup
LRG_1015p1:p.Ala316dup
NC_000022.10:g.38528969_38528971dup
NG_007094.2:g.77728_77730dup
NM_003560.2:c.945_947dupCGC

Links:

dbSNP: rs797045889

NCBI 1000 Genomes Browser:

rs797045889

Molecular consequence:

NM_001004426.3:c.945_947dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001199562.3:c.945_947dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001349864.2:c.945_947dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001349865.2:c.945_947dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001349866.2:c.945_947dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001349867.2:c.411_413dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001349868.2:c.267_269dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001349869.2:c.411_413dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_003560.4:c.945_947dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Neurodegeneration with brain iron accumulation 2B
Synonyms:: NEUROAXONAL DYSTROPHY, ATYPICAL; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED; aNAD; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0012444; MedGen: C1857747; Orphanet: 35069; OMIM: 610217

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000248525	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2007)	Likely pathogenic (Feb 8, 2013)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000248525

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2007)

Likely pathogenic
(Feb 8, 2013)

germline

clinical testing

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]

PMID:: 18414213

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000248525.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Apr 9, 2023

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