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NM_000310.4(PPT1):c.362+5G>A AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 19, 2013
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:
RCV000188713.3

Allele description [Variation Report for NM_000310.4(PPT1):c.362+5G>A]

NM_000310.4(PPT1):c.362+5G>A

Gene:
PPT1:palmitoyl-protein thioesterase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.2
Genomic location:
Preferred name:
NM_000310.4(PPT1):c.362+5G>A
HGVS:
  • NC_000001.11:g.40092040C>T
  • NG_009192.1:g.10431G>A
  • NM_000310.4:c.362+5G>AMANE SELECT
  • NM_001142604.2:c.125-2528G>A
  • NM_001363695.2:c.362+5G>A
  • LRG_690t1:c.362+5G>A
  • LRG_690:g.10431G>A
  • NC_000001.10:g.40557712C>T
  • NM_000310.3:c.362+5G>A
Links:
dbSNP: rs796052924
NCBI 1000 Genomes Browser:
rs796052924
Molecular consequence:
  • NM_000310.4:c.362+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001142604.2:c.125-2528G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363695.2:c.362+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000242337GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Pathogenic
(Jul 19, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000242337.10

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

Description

c.362+5 G>A: IVS3+5 G>A in intron 3 of the PPT1 gene (NM_000310.3). The c.362+5 G>A is predicted to destroy the consensus splice donor site in intron 3, leading to abnormal gene splicing. Although this mutation has not been previously reported to our knowledge, other mutations affecting this splice donor site have been reported in association with neuronal ceroid lipofuscinosis (NCL). Therefore, c.362+5 G>A is considered a disease-causing mutation. The variant is found in EPILEPSY panel(s).

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

Last Updated: Feb 4, 2024