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NM_000391.4(TPP1):c.1367_1368del (p.Leu455_Ser456insTer) AND Neuronal ceroid lipofuscinosis 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 7, 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:
RCV000665954.1

Allele description [Variation Report for NM_000391.4(TPP1):c.1367_1368del (p.Leu455_Ser456insTer)]

NM_000391.4(TPP1):c.1367_1368del (p.Leu455_Ser456insTer)

Gene:
TPP1:tripeptidyl peptidase 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000391.4(TPP1):c.1367_1368del (p.Leu455_Ser456insTer)
HGVS:
  • NC_000011.10:g.6615229_6615230del
  • NG_008653.1:g.9233_9234del
  • NM_000391.4:c.1367_1368delMANE SELECT
  • NP_000382.3:p.Leu455_Ser456insTer
  • LRG_830t1:c.1367_1368del
  • LRG_830:g.9233_9234del
  • LRG_830p1:p.Leu455_Ser456insTer
  • NC_000011.9:g.6636460_6636461del
  • NM_000391.3:c.1367_1368delCT
Links:
dbSNP: rs1554901576
NCBI 1000 Genomes Browser:
rs1554901576
Molecular consequence:
  • NM_000391.4:c.1367_1368del - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000790170Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))
Likely pathogenic
(Mar 7, 2017)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000790170.1

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

Last Updated: Feb 4, 2024