NM_003560.4(PLA2G6):c.1634A>G (p.Lys545Arg) AND Iron accumulation in brain

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:: RCV000147296.6

Allele description [Variation Report for NM_003560.4(PLA2G6):c.1634A>G (p.Lys545Arg)]

NM_003560.4(PLA2G6):c.1634A>G (p.Lys545Arg)

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.1634A>G (p.Lys545Arg)

Other names:

NM_003560.4(PLA2G6):c.1634A>G; p.Lys545Arg

HGVS:

NC_000022.11:g.38120867T>C
NG_007094.3:g.98912A>G
NM_001004426.3:c.1472A>G
NM_001199562.3:c.1472A>G
NM_001349864.2:c.1634A>G
NM_001349865.2:c.1472A>G
NM_001349866.2:c.1472A>G
NM_001349867.2:c.1100A>G
NM_001349868.2:c.956A>G
NM_001349869.2:c.938A>G
NM_003560.4:c.1634A>GMANE SELECT
NP_001004426.1:p.Lys491Arg
NP_001186491.1:p.Lys491Arg
NP_001336793.1:p.Lys545Arg
NP_001336794.1:p.Lys491Arg
NP_001336795.1:p.Lys491Arg
NP_001336796.1:p.Lys367Arg
NP_001336797.1:p.Lys319Arg
NP_001336798.1:p.Lys313Arg
NP_003551.2:p.Lys545Arg
LRG_1015t1:c.1634A>G
LRG_1015:g.98912A>G
LRG_1015p1:p.Lys545Arg
NC_000022.10:g.38516874T>C
NC_000022.10:g.38516874T>C
NG_007094.2:g.89824A>G
NM_003560.2:c.1634A>G

Protein change:

K313R

Links:

dbSNP: rs121908681

NCBI 1000 Genomes Browser:

rs121908681

Molecular consequence:

NM_001004426.3:c.1472A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001199562.3:c.1472A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001349864.2:c.1634A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001349865.2:c.1472A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001349866.2:c.1472A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001349867.2:c.1100A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001349868.2:c.956A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001349869.2:c.938A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003560.4:c.1634A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Iron accumulation in brain
Identifiers:: MedGen: C4021076; Human Phenotype Ontology: HP:0012675

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000194669	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

SCV000194669

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, SCV000194669.1

#	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: Sep 29, 2024

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