U.S. flag

An official website of the United States government

NM_000391.4(TPP1):c.1333_1344dup (p.Ser445_Ala448dup) AND Neuronal ceroid lipofuscinosis 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 8, 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:
RCV000578444.5

Allele description [Variation Report for NM_000391.4(TPP1):c.1333_1344dup (p.Ser445_Ala448dup)]

NM_000391.4(TPP1):c.1333_1344dup (p.Ser445_Ala448dup)

Gene:
TPP1:tripeptidyl peptidase 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000391.4(TPP1):c.1333_1344dup (p.Ser445_Ala448dup)
HGVS:
  • NC_000011.10:g.6615256_6615267dup
  • NG_008653.1:g.9199_9210dup
  • NM_000391.4:c.1333_1344dupMANE SELECT
  • NP_000382.3:p.Ser445_Ala448dup
  • LRG_830t1:c.1333_1344dup
  • LRG_830:g.9199_9210dup
  • LRG_830p1:p.Ser445_Ala448dup
  • NC_000011.9:g.6636487_6636498dup
Links:
dbSNP: rs1554901580
NCBI 1000 Genomes Browser:
rs1554901580
Molecular consequence:
  • NM_000391.4:c.1333_1344dup - inframe_insertion - [Sequence Ontology: SO:0001821]
Observations:
1

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000680414Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
criteria provided, single submitter

(Classification criteria August 2017)		Likely pathogenic
(Nov 8, 2017) 		maternalclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot provided1not providedclinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV000680414.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes1bloodnot provided1not providednot providednot provided

Last Updated: Jun 23, 2024