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NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) AND Tuberous sclerosis syndrome

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000042946.4

Allele description [Variation Report for NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)]

NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)

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.1832G>A (p.Arg611Gln)
HGVS:
  • NC_000016.10:g.2070571G>A
  • NG_005895.1:g.26266G>A
  • NM_000548.5:c.1832G>AMANE SELECT
  • NM_001077183.3:c.1832G>A
  • NM_001114382.3:c.1832G>A
  • NM_001318827.2:c.1721G>A
  • NM_001318829.2:c.1685G>A
  • NM_001318831.2:c.1232G>A
  • NM_001318832.2:c.1865G>A
  • NM_001363528.2:c.1832G>A
  • NM_001370404.1:c.1832G>A
  • NM_001370405.1:c.1832G>A
  • NM_021055.3:c.1832G>A
  • NP_000539.2:p.Arg611Gln
  • NP_001070651.1:p.Arg611Gln
  • NP_001107854.1:p.Arg611Gln
  • NP_001305756.1:p.Arg574Gln
  • NP_001305758.1:p.Arg562Gln
  • NP_001305760.1:p.Arg411Gln
  • NP_001305761.1:p.Arg622Gln
  • NP_001350457.1:p.Arg611Gln
  • NP_001357333.1:p.Arg611Gln
  • NP_001357334.1:p.Arg611Gln
  • NP_066399.2:p.Arg611Gln
  • LRG_487t1:c.1832G>A
  • LRG_487:g.26266G>A
  • NC_000016.9:g.2120572G>A
  • NM_000548.2:c.1832G>A
  • NM_000548.3:c.1832G>A
  • P49815:p.Arg611Gln
  • p.(Arg611Gln)
Protein change:
R411Q; ARG611GLN
Links:
Tuberous sclerosis database (TSC2): TSC2_00105; UniProtKB: P49815#VAR_005650; OMIM: 191092.0006; dbSNP: rs28934872
NCBI 1000 Genomes Browser:
rs28934872
Molecular consequence:
  • NM_000548.5:c.1832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077183.3:c.1832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114382.3:c.1832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318827.2:c.1721G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318829.2:c.1685G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318831.2:c.1232G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318832.2:c.1865G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363528.2:c.1832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370404.1:c.1832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370405.1:c.1832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021055.3:c.1832G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Tuberous sclerosis syndrome (TSC)
Synonyms:
Tuberous sclerosis
Identifiers:
MONDO: MONDO:0001734; MedGen: C0041341; OMIM: PS191100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000066743Tuberous sclerosis database (TSC2)
no classification provided

(Tuberous Sclerosis Database Assertion Criteria 2015)		not providedgermlinecuration

PubMed (18)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes37not providednot providednot providednot providedcuration

Citations

PubMed

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

Jones AC, Shyamsundar MM, Thomas MW, Maynard J, Idziaszczyk S, Tomkins S, Sampson JR, Cheadle JP.

Am J Hum Genet. 1999 May;64(5):1305-15. Review.

PubMed [citation]
PMID:
10205261
PMCID:
PMC1377866

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.

Niida Y, Lawrence-Smith N, Banwell A, Hammer E, Lewis J, Beauchamp RL, Sims K, Ramesh V, Ozelius L.

Hum Mutat. 1999;14(5):412-22.

PubMed [citation]
PMID:
10533067
See all PubMed Citations (18)

Details of each submission

From Tuberous sclerosis database (TSC2), SCV000066743.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (18)

Description

Definite TSC

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 2, 2024