NM_000310.4(PPT1):c.442G>T (p.Gly148Ter) AND Neuronal ceroid lipofuscinosis 1

Clinical significance:Likely pathogenic (Last evaluated: Oct 30, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001650479.1

Allele description [Variation Report for NM_000310.4(PPT1):c.442G>T (p.Gly148Ter)]

NM_000310.4(PPT1):c.442G>T (p.Gly148Ter)

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.442G>T (p.Gly148Ter)
HGVS:
  • NC_000001.11:g.40089504C>A
  • NG_009192.1:g.12967G>T
  • NM_000310.4:c.442G>TMANE SELECT
  • NM_001142604.2:c.133G>T
  • NM_001363695.2:c.442G>T
  • NP_000301.1:p.Gly148Ter
  • NP_001136076.1:p.Gly45Ter
  • NP_001350624.1:p.Gly148Ter
  • LRG_690t1:c.442G>T
  • LRG_690:g.12967G>T
  • NC_000001.10:g.40555176C>A
  • NM_000310.3:c.442G>T
Protein change:
G148*
Molecular consequence:
  • NM_000310.4:c.442G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142604.2:c.133G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001363695.2:c.442G>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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001870334HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI WGScriteria provided, single submitter
Likely pathogenic
(Oct 30, 2020)
unknownresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedresearch

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 HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI WGS, SCV001870334.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

ACMG codes:PVS1, PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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