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NM_000310.4(PPT1):c.544C>T (p.Gln182Ter) AND Neuronal ceroid lipofuscinosis 1

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000049614.1

Allele description [Variation Report for NM_000310.4(PPT1):c.544C>T (p.Gln182Ter)]

NM_000310.4(PPT1):c.544C>T (p.Gln182Ter)

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.544C>T (p.Gln182Ter)
HGVS:
  • NC_000001.11:g.40080480G>A
  • NG_009192.1:g.21991C>T
  • NM_000310.4:c.544C>TMANE SELECT
  • NM_001142604.2:c.235C>T
  • NM_001363695.2:c.544C>T
  • NP_000301.1:p.Gln182Ter
  • NP_000301.1:p.Gln182Ter
  • NP_001136076.1:p.Gln79Ter
  • NP_001350624.1:p.Gln182Ter
  • LRG_690t1:c.544C>T
  • LRG_690:g.21991C>T
  • LRG_690p1:p.Gln182Ter
  • NC_000001.10:g.40546152G>A
  • NM_000310.3:c.544C>T
Protein change:
Q182*
Links:
dbSNP: rs386833654
NCBI 1000 Genomes Browser:
rs386833654
Molecular consequence:
  • NM_000310.4:c.544C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142604.2:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001363695.2:c.544C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Neuronal ceroid lipofuscinosis 1 (CLN1)
Synonyms:
CEROID LIPOFUSCINOSIS, NEURONAL, 1, VARIABLE AGE AT ONSET; CLN1 variable age at onset; Infantile CLN (type of CLN1); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009744; MedGen: C1850451; OMIM: 256730

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000082021Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
no assertion criteria provided
probable-pathogenicnot providednot provided

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

Description

FinDis database variant: This variant was not found or characterized by our laboratory, data were collected from public sources: see reference

SCV000082021

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

Kousi M, Lehesjoki AE, Mole SE.

Hum Mutat. 2012 Jan;33(1):42-63. doi: 10.1002/humu.21624. Epub 2011 Nov 16. Review.

PubMed [citation]
PMID:
21990111

Details of each submission

From Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM), SCV000082021.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022