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NM_003560.4(PLA2G6):c.1547_1548dup (p.Gly517fs) AND Infantile neuroaxonal dystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 18, 2017
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:
RCV000626237.5

Allele description [Variation Report for NM_003560.4(PLA2G6):c.1547_1548dup (p.Gly517fs)]

NM_003560.4(PLA2G6):c.1547_1548dup (p.Gly517fs)

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.1547_1548dup (p.Gly517fs)
HGVS:
  • NC_000022.11:g.38123139_38123140dup
  • NG_007094.3:g.96640_96641dup
  • NM_001004426.3:c.1385_1386dup
  • NM_001199562.3:c.1385_1386dup
  • NM_001349864.2:c.1547_1548dup
  • NM_001349865.2:c.1385_1386dup
  • NM_001349866.2:c.1385_1386dup
  • NM_001349867.2:c.1013_1014dup
  • NM_001349868.2:c.869_870dup
  • NM_001349869.2:c.851_852dup
  • NM_003560.4:c.1547_1548dupMANE SELECT
  • NP_001004426.1:p.Gly463fs
  • NP_001186491.1:p.Gly463fs
  • NP_001336793.1:p.Gly517fs
  • NP_001336794.1:p.Gly463fs
  • NP_001336795.1:p.Gly463fs
  • NP_001336796.1:p.Gly339fs
  • NP_001336797.1:p.Gly291fs
  • NP_001336798.1:p.Gly285fs
  • NP_003551.2:p.Gly517fs
  • LRG_1015t1:c.1547_1548dup
  • LRG_1015:g.96640_96641dup
  • LRG_1015p1:p.Gly517fs
  • NC_000022.10:g.38519146_38519147dup
  • NG_007094.2:g.87552_87553dup
  • NM_003560.3:c.1548_1549insCG
Protein change:
G285fs
Links:
dbSNP: rs1555988204
NCBI 1000 Genomes Browser:
rs1555988204
Molecular consequence:
  • NM_001004426.3:c.1385_1386dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001199562.3:c.1385_1386dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001349864.2:c.1547_1548dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001349865.2:c.1385_1386dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001349866.2:c.1385_1386dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001349867.2:c.1013_1014dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001349868.2:c.869_870dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001349869.2:c.851_852dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003560.4:c.1547_1548dup - frameshift variant - [Sequence Ontology: SO:0001589]

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

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000746887Genomic Research Center, Shahid Beheshti University of Medical Sciences
    criteria provided, single submitter

    (ACMG Guidelines, 2015)    		Pathogenic
    (Dec 18, 2017)     		inheritedclinical 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

    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 Genomic Research Center, Shahid Beheshti University of Medical Sciences, SCV000746887.2

    #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: Jun 17, 2024