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NM_000391.4(TPP1):c.184_185del (p.Ser62fs) AND Neuronal ceroid lipofuscinosis 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 19, 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:
RCV000667218.1

Allele description [Variation Report for NM_000391.4(TPP1):c.184_185del (p.Ser62fs)]

NM_000391.4(TPP1):c.184_185del (p.Ser62fs)

Gene:
TPP1:tripeptidyl peptidase 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000391.4(TPP1):c.184_185del (p.Ser62fs)
HGVS:
  • NC_000011.10:g.6618821AG[1]
  • NC_000011.9:g.6640051_6640052del
  • NG_008653.1:g.5639TC[1]
  • NM_000391.4:c.184_185delMANE SELECT
  • NP_000382.3:p.Ser62fs
  • LRG_830t1:c.184_185del
  • LRG_830:g.5639TC[1]
  • LRG_830p1:p.Ser62fs
  • NC_000011.9:g.6640051_6640052del
  • NC_000011.9:g.6640051_6640052delGA
  • NC_000011.9:g.6640052AG[1]
  • NM_000391.3:c.184_185delTC
Protein change:
S62fs
Links:
dbSNP: rs1554902216
NCBI 1000 Genomes Browser:
rs1554902216
Molecular consequence:
  • NM_000391.4:c.184_185del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000791636Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))
Likely pathogenic
(May 19, 2017)
unknownclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis.

Lam CW, Poon PM, Tong SF, Ko CH.

Am J Med Genet. 2001 Mar 1;99(2):161-3. No abstract available.

PubMed [citation]
PMID:
11241479

Details of each submission

From Counsyl, SCV000791636.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024