NM_000391.4(TPP1):c.829G>A (p.Val277Met) AND Neuronal ceroid lipofuscinosis 2

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000059631.1

Allele description [Variation Report for NM_000391.4(TPP1):c.829G>A (p.Val277Met)]

NM_000391.4(TPP1):c.829G>A (p.Val277Met)

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.829G>A (p.Val277Met)

HGVS:

NC_000011.10:g.6616718C>T
NG_008653.1:g.7744G>A
NM_000391.4:c.829G>AMANE SELECT
NP_000382.3:p.Val277Met
LRG_830t1:c.829G>A
LRG_830:g.7744G>A
LRG_830p1:p.Val277Met
NC_000011.9:g.6637949C>T
NM_000391.3:c.829G>A
O14773:p.Val277Met

Protein change:

V277M

Links:

UniProtKB: O14773#VAR_016793; UniProtKB/Swiss-Prot: VAR_016793; dbSNP: rs121908207

NCBI 1000 Genomes Browser:

rs121908207

Molecular consequence:

NM_000391.4:c.829G>A - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000091199	UniProtKB/Swiss-Prot	no classification provided	not provided	not provided	not provided	PubMed (2) [See all records that cite these PMIDs] 12414822, 20340139

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000091199

UniProtKB/Swiss-Prot

no classification provided

not provided

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles.

Ju W, Zhong R, Moore S, Moroziewicz D, Currie JR, Parfrey P, Brown WT, Zhong N.

J Med Genet. 2002 Nov;39(11):822-5. No abstract available.

PubMed [citation]

PMID:: 12414822
PMCID:: PMC1735024

Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.

Walus M, Kida E, Golabek AA.

Hum Mutat. 2010 Jun;31(6):710-21. doi: 10.1002/humu.21251.

PubMed [citation]

PMID:: 20340139

Details of each submission

From UniProtKB/Swiss-Prot, SCV000091199.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 4, 2024

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