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

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
May 23, 2000
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000055317.6

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:
Lymphangiomyomatosis (LAM)
Synonyms:
Lymphangioleiomyomatosis; Lymphangioleiomyomatosis, somatic
Identifiers:
MONDO: MONDO:0011705; MedGen: C0751674; Orphanet: 538; OMIM: 606690

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000033453OMIM
no assertion criteria provided
Pathogenic
(May 23, 2000) 		somaticliterature only

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

SCV000083537Tuberous sclerosis database (TSC2)
no classification provided

(Tuberous Sclerosis Database Assertion Criteria 2015)		not providedgermlinecuration

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot providednot providednot providedliterature only
not providedgermlineyes2not providednot providednot providednot providedcuration

Citations

PubMed

Complete inactivation of the TSC2 gene leads to formation of hamartomas.

Au KS, Hebert AA, Roach ES, Northrup H.

Am J Hum Genet. 1999 Dec;65(6):1790-5. No abstract available.

PubMed [citation]
PMID:
10577937
PMCID:
PMC1288393

Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.

Wilson PJ, Ramesh V, Kristiansen A, Bove C, Jozwiak S, Kwiatkowski DJ, Short MP, Haines JL.

Hum Mol Genet. 1996 Feb;5(2):249-56.

PubMed [citation]
PMID:
8824881
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000033453.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

In 2 unrelated patients with tuberous sclerosis (613254), Au et al. (1998) found a 1832G-A transition in exon 16 of the TSC2 gene, predicted to cause an arg611-to-gln (R611Q) amino acid substitution in the protein. A change in the same codon had been reported in a patient with tuberous sclerosis by Wilson et al. (1996).

In tissues from 2 unrelated patients with pulmonary lymphangioleiomyomatosis (606690), Carsillo et al. (2000) identified an 1832G-A transition in exon 16 of the TSC2 gene, resulting in an arg611-to-gln mutation. In 1 patient the tissue studied was kidney angiomyolipoma; in the other, both kidney and pulmonary tumors were studied.

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

From Tuberous sclerosis database (TSC2), SCV000083537.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2024