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NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=) AND multiple conditions

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Aug 3, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV002479994.2

Allele description [Variation Report for NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=)]

NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=)

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.1077G>A (p.Ser359=)
Other names:
NM_003560.4(PLA2G6):c.1077G>A; p.Ser359=
HGVS:
  • NC_000022.11:g.38132831C>T
  • NG_007094.3:g.86948G>A
  • NM_001004426.3:c.1077G>A
  • NM_001199562.3:c.1077G>A
  • NM_001349864.2:c.1077G>A
  • NM_001349865.2:c.1077G>A
  • NM_001349866.2:c.1077G>A
  • NM_001349867.2:c.543G>A
  • NM_001349868.2:c.399G>A
  • NM_001349869.2:c.543G>A
  • NM_003560.4:c.1077G>AMANE SELECT
  • NP_001004426.1:p.Ser359=
  • NP_001186491.1:p.Ser359=
  • NP_001336793.1:p.Ser359=
  • NP_001336794.1:p.Ser359=
  • NP_001336795.1:p.Ser359=
  • NP_001336796.1:p.Ser181=
  • NP_001336797.1:p.Ser133=
  • NP_001336798.1:p.Ser181=
  • NP_003551.2:p.Ser359=
  • LRG_1015t1:c.1077G>A
  • LRG_1015:g.86948G>A
  • LRG_1015p1:p.Ser359=
  • NC_000022.10:g.38528838C>T
  • NG_007094.2:g.77860G>A
  • NM_003560.2:c.1077G>A
Links:
dbSNP: rs368497893
NCBI 1000 Genomes Browser:
rs368497893
Molecular consequence:
  • NM_001004426.3:c.1077G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001199562.3:c.1077G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001349864.2:c.1077G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001349865.2:c.1077G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001349866.2:c.1077G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001349867.2:c.543G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001349868.2:c.399G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001349869.2:c.543G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003560.4:c.1077G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Infantile neuroaxonal dystrophy (NBIA2A)
Synonyms:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; Seitelberger disease; Infantile neuroaxonal dystrophy 1
Identifiers:
MONDO: MONDO:0024457; MedGen: C0270724; Orphanet: 35069; OMIM: 256600
Name:
Neurodegeneration with brain iron accumulation 2B
Synonyms:
NEUROAXONAL DYSTROPHY, ATYPICAL; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED; aNAD; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012444; MedGen: C1857747; Orphanet: 35069; OMIM: 610217
Name:
Autosomal recessive Parkinson disease 14
Synonyms:
DYSTONIA-PARKINSONISM, ADULT-ONSET; Parkinson disease 14
Identifiers:
MONDO: MONDO:0013060; MedGen: C2751842; Orphanet: 199351; OMIM: 612953

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002789018Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 3, 2021) 		unknownclinical testing

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

SCV004697616Molecular Genetics Lab, CHRU Brest
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicinheritedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002789018.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Molecular Genetics Lab, CHRU Brest, SCV004697616.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024