NM_000548.5(TSC2):c.4586G>A (p.Arg1529Gln) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 10, 2024
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:: RCV002341366.3

Allele description [Variation Report for NM_000548.5(TSC2):c.4586G>A (p.Arg1529Gln)]

NM_000548.5(TSC2):c.4586G>A (p.Arg1529Gln)

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.4586G>A (p.Arg1529Gln)

HGVS:

NC_000016.10:g.2085246G>A
NG_005895.1:g.40941G>A
NM_000548.5:c.4586G>AMANE SELECT
NM_001077183.3:c.4385G>A
NM_001114382.3:c.4517G>A
NM_001318827.2:c.4277G>A
NM_001318829.2:c.4241G>A
NM_001318831.2:c.3854G>A
NM_001318832.2:c.4418G>A
NM_001363528.2:c.4388G>A
NM_001370404.1:c.4454G>A
NM_001370405.1:c.4457G>A
NM_021055.3:c.4457G>A
NP_000539.2:p.Arg1529Gln
NP_001070651.1:p.Arg1462Gln
NP_001107854.1:p.Arg1506Gln
NP_001305756.1:p.Arg1426Gln
NP_001305758.1:p.Arg1414Gln
NP_001305760.1:p.Arg1285Gln
NP_001305761.1:p.Arg1473Gln
NP_001350457.1:p.Arg1463Gln
NP_001357333.1:p.Arg1485Gln
NP_001357334.1:p.Arg1486Gln
NP_066399.2:p.Arg1486Gln
LRG_487t1:c.4586G>A
LRG_487:g.40941G>A
NC_000016.9:g.2135247G>A
NM_000548.3:c.4586G>A

Protein change:

R1285Q

Links:

dbSNP: rs769834772

NCBI 1000 Genomes Browser:

rs769834772

Molecular consequence:

NM_000548.5:c.4586G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001077183.3:c.4385G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001114382.3:c.4517G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001318827.2:c.4277G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001318829.2:c.4241G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001318831.2:c.3854G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001318832.2:c.4418G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001363528.2:c.4388G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370404.1:c.4454G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370405.1:c.4457G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_021055.3:c.4457G>A - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002637476	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 10, 2024)	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

SCV002637476

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 10, 2024)

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

Genetic characteristics of non-familial epilepsy.

Kang KW, Kim W, Cho YW, Lee SK, Jung KY, Shin W, Kim DW, Kim WJ, Lee HW, Kim W, Kim K, Lee SH, Choi SY, Kim MK.

PeerJ. 2019;7:e8278. doi: 10.7717/peerj.8278.

PubMed [citation]

PMID:: 31875159
PMCID:: PMC6925949

Details of each submission

From Ambry Genetics, SCV002637476.3

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

Description

The p.R1529Q variant (also known as c.4586G>A), located in coding exon 35 of the TSC2 gene, results from a G to A substitution at nucleotide position 4586. The arginine at codon 1529 is replaced by glutamine, an amino acid with highly similar properties. In a study of 243 non-familial adult patients with primarily focal epilepsy, this variant was detected in a 31-year-old Korean female with drug responsive, non-febrile, non-lesional, focal epilepsy and no family history of epilepsy (Kang KW et al. PeerJ. 2019 Dec;7:e8278). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine