NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 28, 2015
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:: RCV000491130.3

Allele description [Variation Report for NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter)]

NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter)

Gene:

TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter)

HGVS:

NC_000016.10:g.2064275G>T
NG_005895.1:g.19970G>T
NM_000548.5:c.1447G>TMANE SELECT
NM_001077183.3:c.1447G>T
NM_001114382.3:c.1447G>T
NM_001318827.2:c.1336G>T
NM_001318829.2:c.1300G>T
NM_001318831.2:c.847G>T
NM_001318832.2:c.1480G>T
NM_001363528.2:c.1447G>T
NM_001370404.1:c.1447G>T
NM_001370405.1:c.1447G>T
NM_021055.3:c.1447G>T
NP_000539.2:p.Glu483Ter
NP_001070651.1:p.Glu483Ter
NP_001107854.1:p.Glu483Ter
NP_001305756.1:p.Glu446Ter
NP_001305758.1:p.Glu434Ter
NP_001305760.1:p.Glu283Ter
NP_001305761.1:p.Glu494Ter
NP_001350457.1:p.Glu483Ter
NP_001357333.1:p.Glu483Ter
NP_001357334.1:p.Glu483Ter
NP_066399.2:p.Glu483Ter
LRG_487t1:c.1447G>T
LRG_487:g.19970G>T
NC_000016.9:g.2114276G>T
NM_000548.3:c.1447G>T
p.(Glu483*)

Protein change:

E283*

Links:

Tuberous sclerosis database (TSC2): TSC2_02030; dbSNP: rs397515297

NCBI 1000 Genomes Browser:

rs397515297

Molecular consequence:

NM_000548.5:c.1447G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001077183.3:c.1447G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001114382.3:c.1447G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001318827.2:c.1336G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001318829.2:c.1300G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001318831.2:c.847G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001318832.2:c.1480G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001363528.2:c.1447G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001370404.1:c.1447G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001370405.1:c.1447G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_021055.3:c.1447G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000579584	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Dec 28, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000579584

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Dec 28, 2015)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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

Citations

PubMed

Identification of TSC1 and TSC2 mutations in Korean patients with tuberous sclerosis complex.

Jang MA, Hong SB, Lee JH, Lee MH, Chung MP, Shin HJ, Kim JW, Ki CS.

Pediatr Neurol. 2012 Apr;46(4):222-4. doi: 10.1016/j.pediatrneurol.2012.02.002.

PubMed [citation]

PMID:: 22490766

Details of each submission

From Ambry Genetics, SCV000579584.6

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

Description

The p.E483* pathogenic mutation (also known as c.1447G>T), located in coding exon 14 of the TSC2 gene, results from a G to T substitution at nucleotide position 1447. This changes the amino acid from a glutamic acid to a stop codon within coding exon 14. This mutation has been described in an individual fulfilling definitive diagnostic criteria for tuberous sclerosis complex (Jang MA et al. Pediatr. Neurol. 2012;46(4):222-4). In addition to the clinical data presented in the literature, since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

#	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: Jun 2, 2024

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