NM_000391.4(TPP1):c.532C>G (p.Pro178Ala) AND Neuronal ceroid lipofuscinosis 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 24, 2020
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:: RCV001833126.1

Allele description [Variation Report for NM_000391.4(TPP1):c.532C>G (p.Pro178Ala)]

NM_000391.4(TPP1):c.532C>G (p.Pro178Ala)

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.532C>G (p.Pro178Ala)

Other names:

p.P178A:CCA>GCA

HGVS:

NC_000011.10:g.6617130G>C
NG_008653.1:g.7332C>G
NM_000391.4:c.532C>GMANE SELECT
NP_000382.3:p.Pro178Ala
LRG_830t1:c.532C>G
LRG_830:g.7332C>G
LRG_830p1:p.Pro178Ala
NC_000011.9:g.6638361G>C
NM_000391.3:c.532C>G

Protein change:

P178A

Links:

dbSNP: rs149986601

NCBI 1000 Genomes Browser:

rs149986601

Molecular consequence:

NM_000391.4:c.532C>G - 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
SCV002094868	Natera, Inc.	no assertion criteria provided	Uncertain significance (Mar 24, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002094868

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Mar 24, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV002094868.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Sep 29, 2024

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