NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys) AND Hereditary cancer-predisposing syndrome

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

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 8, 2018
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:: RCV000568490.1

Allele description

NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)

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.1460C>G (p.Ser487Cys)

Other names:

p.S487C:TCT>TGT

HGVS:

NC_000009.12:g.132906118G>C
NG_012386.1:g.43516C>G
NM_000368.5:c.1460C>GMANE SELECT
NM_001162426.2:c.1457C>G
NM_001162427.2:c.1307C>G
NM_001362177.2:c.1097C>G
NP_000359.1:p.Ser487Cys
NP_000359.1:p.Ser487Cys
NP_001155898.1:p.Ser486Cys
NP_001155899.1:p.Ser436Cys
NP_001349106.1:p.Ser366Cys
LRG_486t1:c.1460C>G
LRG_486:g.43516C>G
LRG_486p1:p.Ser487Cys
NC_000009.11:g.135781505G>C
NM_000368.3:c.1460C>G
NM_000368.4:c.1460C>G
p.(Ser487Cys)

Protein change:

S366C

Links:

Tuberous sclerosis database (TSC1): TSC1_00343; dbSNP: rs118203532

NCBI 1000 Genomes Browser:

rs118203532

Molecular consequence:

NM_000368.5:c.1460C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001162426.2:c.1457C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001162427.2:c.1307C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001362177.2:c.1097C>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000664629	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (3/2017))	Likely benign (Aug 8, 2018)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 16554133, 21309039, 25077650, 27153395 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000664629

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))

Likely benign
(Aug 8, 2018)

germline

clinical testing

PubMed (4)
[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

Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex.

Choi JE, Chae JH, Hwang YS, Kim KJ.

Brain Dev. 2006 Aug;28(7):440-6. Epub 2006 Mar 22.

PubMed [citation]

PMID:: 16554133

Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.

Hoogeveen-Westerveld M, Wentink M, van den Heuvel D, Mozaffari M, Ekong R, Povey S, den Dunnen JT, Metcalfe K, Vallee S, Krueger S, Bergoffen J, Shashi V, Elmslie F, Kwiatkowski D, Sampson J, Vidales C, Dzarir J, Garcia-Planells J, Dies K, Maat-Kievit A, van den Ouweland A, Halley D, et al.

Hum Mutat. 2011 Apr;32(4):424-35. doi: 10.1002/humu.21451. Epub 2011 Mar 8.

PubMed [citation]

PMID:: 21309039

See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000664629.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (4)

Description

Insufficient or conflicting evidence;Other strong data supporting benign classification;Subpopulation frequency in support of benign classification

#	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: May 24, 2022

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