NM_003560.4(PLA2G6):c.945_947dup (p.Ala316dup) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 20, 2021
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:: RCV001582688.2

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)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001821326	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Aug 20, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001821326

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Aug 20, 2021)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis.

Al-Maawali A, Yoon G, Feigenbaum AS, Halliday WC, Clarke JT, Branson HM, Banwell BL, Chitayat D, Blaser SI.

Neuroradiology. 2016 Oct;58(10):1035-1042. Epub 2016 Aug 11.

PubMed [citation]

PMID:: 27516098

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001821326.1

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

Description

Variant summary: PLA2G6 c.945_947dupCGC (p.Ala316dup) results in an in-frame duplication that is predicted to duplicate one amino acid into the encoded protein. The variant was absent in 174588 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.945_947dupCGC has been reported in the literature in an individual affected with Neurodegeneration With Brain Iron Accumulation in the compound heterozygous state (Al-Maawali_2016). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Apr 9, 2023

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