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NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 3, 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:
RCV001550736.5

Allele description [Variation Report for NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His)]

NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His)

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.2129G>A (p.Arg710His)
Other names:
NM_003560.4(PLA2G6):c.2129G>A; p.Arg710His
HGVS:
  • NC_000022.11:g.38113560C>T
  • NG_007094.3:g.106219G>A
  • NG_033059.2:g.2110G>A
  • NM_001004426.3:c.1967G>A
  • NM_001199562.3:c.1967G>A
  • NM_001349864.2:c.2129G>A
  • NM_001349865.2:c.1967G>A
  • NM_001349866.2:c.1967G>A
  • NM_001349867.2:c.1595G>A
  • NM_001349868.2:c.1451G>A
  • NM_001349869.2:c.1433G>A
  • NM_003560.4:c.2129G>AMANE SELECT
  • NP_001004426.1:p.Arg656His
  • NP_001186491.1:p.Arg656His
  • NP_001336793.1:p.Arg710His
  • NP_001336794.1:p.Arg656His
  • NP_001336795.1:p.Arg656His
  • NP_001336796.1:p.Arg532His
  • NP_001336797.1:p.Arg484His
  • NP_001336798.1:p.Arg478His
  • NP_003551.2:p.Arg710His
  • LRG_1015t1:c.2129G>A
  • LRG_1015:g.106219G>A
  • LRG_1015p1:p.Arg710His
  • NC_000022.10:g.38509567C>T
  • NG_007094.2:g.97131G>A
  • NM_001199562.1:c.1967G>A
  • NM_003560.2:c.2129G>A
Protein change:
R478H
Links:
dbSNP: rs147455037
NCBI 1000 Genomes Browser:
rs147455037
Molecular consequence:
  • NM_001004426.3:c.1967G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199562.3:c.1967G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349864.2:c.2129G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349865.2:c.1967G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349866.2:c.1967G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349867.2:c.1595G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349868.2:c.1451G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349869.2:c.1433G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003560.4:c.2129G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001771116GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jun 3, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001771116.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26539891, 31493945, 34426522)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024