NM_003560.4(PLA2G6):c.1509del (p.Ser504fs) AND Iron accumulation in brain

Germline classification:: 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:: RCV000147289.6

Allele description [Variation Report for NM_003560.4(PLA2G6):c.1509del (p.Ser504fs)]

NM_003560.4(PLA2G6):c.1509del (p.Ser504fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

22q13.1

Genomic location:

Preferred name:

NM_003560.4(PLA2G6):c.1509del (p.Ser504fs)

HGVS:

NC_000022.11:g.38123178del
NG_007094.3:g.96602del
NM_001004426.3:c.1347del
NM_001199562.3:c.1347del
NM_001349864.2:c.1509del
NM_001349865.2:c.1347del
NM_001349866.2:c.1347del
NM_001349867.2:c.975del
NM_001349868.2:c.831del
NM_001349869.2:c.813del
NM_003560.4:c.1509delMANE SELECT
NP_001004426.1:p.Ser450fs
NP_001186491.1:p.Ser450fs
NP_001336793.1:p.Ser504fs
NP_001336794.1:p.Ser450fs
NP_001336795.1:p.Ser450fs
NP_001336796.1:p.Ser326fs
NP_001336797.1:p.Ser278fs
NP_001336798.1:p.Ser272fs
NP_003551.2:p.Ser504fs
LRG_1015t1:c.1509del
LRG_1015:g.96602del
LRG_1015p1:p.Ser504fs
NC_000022.10:g.38519185del
NG_007094.2:g.87514del

Protein change:

S272fs

Links:

dbSNP: rs587784333

NCBI 1000 Genomes Browser:

rs587784333

Molecular consequence:

NM_001004426.3:c.1347del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001199562.3:c.1347del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001349864.2:c.1509del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001349865.2:c.1347del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001349866.2:c.1347del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001349867.2:c.975del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001349868.2:c.831del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001349869.2:c.813del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003560.4:c.1509del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000194662	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2007)	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

SCV000194662

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2007)

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, SCV000194662.1

#	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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