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NM_000391.4(TPP1):c.1600C>T (p.Gln534Ter) AND Neuronal ceroid lipofuscinosis 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 19, 2021
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:
RCV001828011.1

Allele description [Variation Report for NM_000391.4(TPP1):c.1600C>T (p.Gln534Ter)]

NM_000391.4(TPP1):c.1600C>T (p.Gln534Ter)

Gene:
TPP1:tripeptidyl peptidase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000391.4(TPP1):c.1600C>T (p.Gln534Ter)
HGVS:
  • NC_000011.10:g.6614638G>A
  • NG_008653.1:g.9824C>T
  • NM_000391.3:c.1600C>T
  • NM_000391.4:c.1600C>TMANE SELECT
  • NP_000382.3:p.Gln534Ter
  • LRG_830t1:c.1600C>T
  • LRG_830:g.9824C>T
  • LRG_830p1:p.Gln534Ter
  • NC_000011.9:g.6635869G>A
  • NM_000391.4:c.1600C>T
Protein change:
Q534*
Links:
dbSNP: rs1554901472
NCBI 1000 Genomes Browser:
rs1554901472
Molecular consequence:
  • NM_000391.4:c.1600C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Neuronal ceroid lipofuscinosis 2
Synonyms:
JANSKY-BIELSCHOWSKY DISEASE NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE; TPP1-Related Neuronal Ceroid-Lipofuscinosis
Identifiers:
MONDO: MONDO:0008769; MedGen: C1876161; Orphanet: 168491; Orphanet: 228349; Orphanet: 79264; OMIM: 204500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002094790Natera, Inc.
no assertion criteria provided
Pathogenic
(Jul 19, 2021) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002094790.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024