NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 13, 2022
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:: RCV002515980.2

Allele description [Variation Report for NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His)]

NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His)

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.2215G>C (p.Asp739His)

Other names:

NM_003560.4(PLA2G6):c.2215G>C; p.Asp739His

HGVS:

NC_000022.11:g.38112565C>G
NG_007094.3:g.107214G>C
NG_033059.2:g.3105G>C
NM_001004426.3:c.2053G>C
NM_001199562.3:c.2053G>C
NM_001349864.2:c.2215G>C
NM_001349865.2:c.2053G>C
NM_001349866.2:c.2053G>C
NM_001349867.2:c.1681G>C
NM_001349868.2:c.1537G>C
NM_001349869.2:c.1519G>C
NM_003560.4:c.2215G>CMANE SELECT
NP_001004426.1:p.Asp685His
NP_001186491.1:p.Asp685His
NP_001336793.1:p.Asp739His
NP_001336794.1:p.Asp685His
NP_001336795.1:p.Asp685His
NP_001336796.1:p.Asp561His
NP_001336797.1:p.Asp513His
NP_001336798.1:p.Asp507His
NP_003551.2:p.Asp739His
LRG_1015t1:c.2215G>C
LRG_1015:g.107214G>C
LRG_1015p1:p.Asp739His
NC_000022.10:g.38508572C>G
NG_007094.2:g.98126G>C
NM_003560.2:c.2215G>C

Protein change:

D507H

Links:

dbSNP: rs587784349

NCBI 1000 Genomes Browser:

rs587784349

Molecular consequence:

NM_001004426.3:c.2053G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001199562.3:c.2053G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349864.2:c.2215G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349865.2:c.2053G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349866.2:c.2053G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349867.2:c.1681G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349868.2:c.1537G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349869.2:c.1519G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003560.4:c.2215G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003624714	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 13, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 16783378, 30120687 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003624714

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 13, 2022)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

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

Kamel WA, Al-Hashel JY, Abdulsalam AJ, Damier P, Al-Mejalhem AY.

Acta Neurol Belg. 2019 Dec;119(4):621-622. doi: 10.1007/s13760-018-1003-z. Epub 2018 Aug 17. No abstract available.

PubMed [citation]

PMID:: 30120687

Details of each submission

From Ambry Genetics, SCV003624714.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The c.2215G>C (p.D739H) alteration is located in exon 16 (coding exon 15) of the PLA2G6 gene. This alteration results from a G to C substitution at nucleotide position 2215, causing the aspartic acid (D) at amino acid position 739 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: Sep 29, 2024

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