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NM_000548.5(TSC2):c.2540T>C (p.Leu847Pro) 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:
RCV000043337.3

Allele description [Variation Report for NM_000548.5(TSC2):c.2540T>C (p.Leu847Pro)]

NM_000548.5(TSC2):c.2540T>C (p.Leu847Pro)

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.2540T>C (p.Leu847Pro)
HGVS:
  • NC_000016.10:g.2074384T>C
  • NG_005895.1:g.30079T>C
  • NM_000548.5:c.2540T>CMANE SELECT
  • NM_001077183.3:c.2540T>C
  • NM_001114382.3:c.2540T>C
  • NM_001318827.2:c.2429T>C
  • NM_001318829.2:c.2393T>C
  • NM_001318831.2:c.1940T>C
  • NM_001318832.2:c.2573T>C
  • NM_001363528.2:c.2540T>C
  • NM_001370404.1:c.2540T>C
  • NM_001370405.1:c.2540T>C
  • NM_021055.3:c.2540T>C
  • NP_000539.2:p.Leu847Pro
  • NP_001070651.1:p.Leu847Pro
  • NP_001107854.1:p.Leu847Pro
  • NP_001305756.1:p.Leu810Pro
  • NP_001305758.1:p.Leu798Pro
  • NP_001305760.1:p.Leu647Pro
  • NP_001305761.1:p.Leu858Pro
  • NP_001350457.1:p.Leu847Pro
  • NP_001357333.1:p.Leu847Pro
  • NP_001357334.1:p.Leu847Pro
  • NP_066399.2:p.Leu847Pro
  • LRG_487t1:c.2540T>C
  • LRG_487:g.30079T>C
  • NC_000016.9:g.2124385T>C
  • NM_000548.3:c.2540T>C
  • p.(Leu847Pro)
Protein change:
L647P
Links:
Tuberous sclerosis database (TSC2): TSC2_00466; dbSNP: rs45517240
NCBI 1000 Genomes Browser:
rs45517240
Molecular consequence:
  • NM_000548.5:c.2540T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077183.3:c.2540T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114382.3:c.2540T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318827.2:c.2429T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318829.2:c.2393T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318831.2:c.1940T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318832.2:c.2573T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363528.2:c.2540T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370404.1:c.2540T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370405.1:c.2540T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021055.3:c.2540T>C - 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
SCV000067143Tuberous sclerosis database (TSC2)
no classification provided

(Tuberous Sclerosis Database Assertion Criteria 2015)		not providedgermlinecuration

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedcuration

Citations

PubMed

[Mutation screening and prenatal diagnosis of tuberous sclerosis complex].

Li W, Zhou LH, Gao BD, Li LY, Zhong CG, Gong F, Xiao HM, Song T, Lu GX.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Aug;28(4):361-6. doi: 10.3760/cma.j.issn.1003-9406.2011.04.001. Chinese.

PubMed [citation]
PMID:
21811971

Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.

Hoogeveen-Westerveld M, Ekong R, Povey S, Karbassi I, Batish SD, den Dunnen JT, van Eeghen A, Thiele E, Mayer K, Dies K, Wen L, Thompson C, Sparagana SP, Davies P, Aalfs C, van den Ouweland A, Halley D, Nellist M.

Hum Mutat. 2012 Mar;33(3):476-9. doi: 10.1002/humu.22007. Epub 2012 Jan 17.

PubMed [citation]
PMID:
22161988

Details of each submission

From Tuberous sclerosis database (TSC2), SCV000067143.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 5, 2022