NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter) AND Hereditary cancer-predisposing syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 5, 2021
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:: RCV000491852.3

Allele description

NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)

Gene:

TSC1:TSC complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

Preferred name:

NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)

HGVS:

NC_000009.12:g.132902640G>A
NG_012386.1:g.46994C>T
NM_000368.5:c.2356C>TMANE SELECT
NM_001162426.2:c.2353C>T
NM_001162427.2:c.2203C>T
NM_001362177.2:c.1993C>T
NP_000359.1:p.Arg786Ter
NP_000359.1:p.Arg786Ter
NP_001155898.1:p.Arg785Ter
NP_001155899.1:p.Arg735Ter
NP_001349106.1:p.Arg665Ter
LRG_486t1:c.2356C>T
LRG_486:g.46994C>T
LRG_486p1:p.Arg786Ter
NC_000009.11:g.135778027G>A
NM_000368.3:c.2356C>T
NM_000368.4:c.2356C>T
p.R785X
p.(Arg786*)
p.Arg786*

Protein change:

R665*

Links:

Tuberous sclerosis database (TSC1): TSC1_00156; dbSNP: rs118203682

NCBI 1000 Genomes Browser:

rs118203682

Molecular consequence:

NM_000368.5:c.2356C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001162426.2:c.2353C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001162427.2:c.2203C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001362177.2:c.1993C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

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
SCV000579943	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Pathogenic (Apr 5, 2021)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 16981987, 32211034, 9242607 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000579943

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Pathogenic
(Apr 5, 2021)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

Hung CC, Su YN, Chien SC, Liou HH, Chen CC, Chen PC, Hsieh CJ, Chen CP, Lee WT, Lin WL, Lee CN.

BMC Med Genet. 2006 Sep 18;7:72.

PubMed [citation]

PMID:: 16981987
PMCID:: PMC1592085

Genotype and Phenotype Analysis of Chinese Children With Tuberous Sclerosis Complex: A Pediatric Cohort Study.

Ding Y, Wang J, Zhou S, Zhou Y, Zhang L, Yu L, Wang Y.

Front Genet. 2020;11:204. doi: 10.3389/fgene.2020.00204.

PubMed [citation]

PMID:: 32211034
PMCID:: PMC7076134

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000579943.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

Description

The p.R786* pathogenic mutation (also known as c.2356C>T), located in coding exon 16 of the TSC1 gene, results from a C to T substitution at nucleotide position 2356. This changes the amino acid from an arginine to a stop codon within coding exon 16. This mutation has been detected in both sporadic and familial tuberous sclerosis complex (TSC) cases (van Slegtenhorst M et al. Science. 1997 Aug;277:805-8; Hung CC et al. BMC Med. Genet. 2006 Sep;7:72). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Apr 15, 2024

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