NM_000391.4(TPP1):c.1176_1177del (p.Phe393fs) AND Neuronal ceroid lipofuscinosis 2

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 17, 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:: RCV002309045.2

Allele description [Variation Report for NM_000391.4(TPP1):c.1176_1177del (p.Phe393fs)]

NM_000391.4(TPP1):c.1176_1177del (p.Phe393fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000391.4(TPP1):c.1176_1177del (p.Phe393fs)

HGVS:

NC_000011.10:g.6615531_6615532del
NG_008653.1:g.8930_8931del
NM_000391.4:c.1176_1177delMANE SELECT
NP_000382.3:p.Phe393fs
LRG_830t1:c.1176_1177del
LRG_830:g.8930_8931del
LRG_830p1:p.Phe393fs
NC_000011.9:g.6636762_6636763del

Protein change:

F393fs

Molecular consequence:

NM_000391.4:c.1176_1177del - 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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LOC124900468 [Homo sapiens]
LOC124900468 [Homo sapiens]
Gene ID:124900468

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002602854	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))	Likely pathogenic (Mar 17, 2022)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002602854

Myriad Genetics, Inc.

criteria provided, single submitter

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

Likely pathogenic
(Mar 17, 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., SCV002602854.2

#	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.1176_1177delCT(F393Pfs*9) 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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