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NM_000548.5(TSC2):c.5146G>C (p.Ala1716Pro) 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:
RCV000042744.3

Allele description [Variation Report for NM_000548.5(TSC2):c.5146G>C (p.Ala1716Pro)]

NM_000548.5(TSC2):c.5146G>C (p.Ala1716Pro)

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.5146G>C (p.Ala1716Pro)
HGVS:
  • NC_000016.10:g.2088125G>C
  • NG_005895.1:g.43820G>C
  • NG_008617.1:g.55096C>G
  • NM_000548.5:c.5146G>CMANE SELECT
  • NM_001077183.3:c.4945G>C
  • NM_001114382.3:c.5077G>C
  • NM_001318827.2:c.4837G>C
  • NM_001318829.2:c.4801G>C
  • NM_001318831.2:c.4414G>C
  • NM_001318832.2:c.4978G>C
  • NM_001363528.2:c.4948G>C
  • NM_001370404.1:c.5014G>C
  • NM_001370405.1:c.5017G>C
  • NM_021055.3:c.5017G>C
  • NP_000539.2:p.Ala1716Pro
  • NP_001070651.1:p.Ala1649Pro
  • NP_001107854.1:p.Ala1693Pro
  • NP_001305756.1:p.Ala1613Pro
  • NP_001305758.1:p.Ala1601Pro
  • NP_001305760.1:p.Ala1472Pro
  • NP_001305761.1:p.Ala1660Pro
  • NP_001350457.1:p.Ala1650Pro
  • NP_001357333.1:p.Ala1672Pro
  • NP_001357334.1:p.Ala1673Pro
  • NP_066399.2:p.Ala1673Pro
  • LRG_487t1:c.5146G>C
  • LRG_487:g.43820G>C
  • NC_000016.9:g.2138126G>C
  • NM_000548.3:c.5146G>C
  • p.(Ala1716Pro)
Protein change:
A1472P
Links:
Tuberous sclerosis database (TSC2): TSC2_00889; dbSNP: rs45517397
NCBI 1000 Genomes Browser:
rs45517397
Molecular consequence:
  • NM_000548.5:c.5146G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077183.3:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114382.3:c.5077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318827.2:c.4837G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318829.2:c.4801G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318831.2:c.4414G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318832.2:c.4978G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363528.2:c.4948G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370404.1:c.5014G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370405.1:c.5017G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021055.3:c.5017G>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
SCV000066539Tuberous 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 providedgermlineyes1not providednot providednot providednot providedcuration

Citations

PubMed

Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, Wheless JW, Baumgartner JE, Roa BB, Wilson CM, Smith-Knuppel TK, Cheung MY, Whittemore VH, King TM, Northrup H.

Genet Med. 2007 Feb;9(2):88-100.

PubMed [citation]
PMID:
17304050

Details of each submission

From Tuberous sclerosis database (TSC2), SCV000066539.3

#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 2, 2024