NM_000391.4(TPP1):c.1248_1250delinsT (p.Pro417fs) AND Neuronal ceroid lipofuscinosis 2

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 19, 2022
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:: RCV002309831.2

Allele description [Variation Report for NM_000391.4(TPP1):c.1248_1250delinsT (p.Pro417fs)]

NM_000391.4(TPP1):c.1248_1250delinsT (p.Pro417fs)

Gene:

TPP1:tripeptidyl peptidase 1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000391.4(TPP1):c.1248_1250delinsT (p.Pro417fs)

HGVS:

NC_000011.10:g.6615458_6615460delinsA
NG_008653.1:g.9002_9004delinsT
NM_000391.4:c.1248_1250delinsTMANE SELECT
NP_000382.3:p.Pro417fs
LRG_830t1:c.1248_1250delinsT
LRG_830:g.9002_9004delinsT
LRG_830p1:p.Pro417fs
NC_000011.9:g.6636689_6636691delinsA

Protein change:

P417fs

Molecular consequence:

NM_000391.4:c.1248_1250delinsT - 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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Homo sapiens inner mitochondrial membrane peptidase subunit 2 (IMMP2L), transcri...
Homo sapiens inner mitochondrial membrane peptidase subunit 2 (IMMP2L), transcript variant 7, mRNA; nuclear gene for mitochondrial product
gi|1708718903|ref|NM_001350963.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002603710	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))	Likely pathogenic (Feb 19, 2022)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002603710

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))

Likely pathogenic
(Feb 19, 2022)

unknown

clinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002603710.2

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

Description

NM_000391.3(TPP1):c.1248_1250delCCCinsT(P417Tfs*16) is expected to be pathogenic in the context of TPP1-related neuronal ceroid lipofuscinosis. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in TPP1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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

Last Updated: Feb 4, 2024

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