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NM_000548.5(TSC2):c.5220G>A (p.Trp1740Ter) 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:
RCV000042623.3

Allele description [Variation Report for NM_000548.5(TSC2):c.5220G>A (p.Trp1740Ter)]

NM_000548.5(TSC2):c.5220G>A (p.Trp1740Ter)

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.5220G>A (p.Trp1740Ter)
HGVS:
  • NC_000016.10:g.2088286G>A
  • NG_005895.1:g.43981G>A
  • NG_008617.1:g.54935C>T
  • NM_000548.5:c.5220G>AMANE SELECT
  • NM_001077183.3:c.5019G>A
  • NM_001114382.3:c.5151G>A
  • NM_001318827.2:c.4911G>A
  • NM_001318829.2:c.4875G>A
  • NM_001318831.2:c.4488G>A
  • NM_001318832.2:c.5052G>A
  • NM_001363528.2:c.5022G>A
  • NM_001370404.1:c.5088G>A
  • NM_001370405.1:c.5079G>A
  • NM_021055.3:c.5091G>A
  • NP_000539.2:p.Trp1740Ter
  • NP_001070651.1:p.Trp1673Ter
  • NP_001107854.1:p.Trp1717Ter
  • NP_001305756.1:p.Trp1637Ter
  • NP_001305758.1:p.Trp1625Ter
  • NP_001305760.1:p.Trp1496Ter
  • NP_001305761.1:p.Trp1684Ter
  • NP_001350457.1:p.Trp1674Ter
  • NP_001357333.1:p.Trp1696Ter
  • NP_001357334.1:p.Trp1693Ter
  • NP_066399.2:p.Trp1697Ter
  • LRG_487t1:c.5220G>A
  • LRG_487:g.43981G>A
  • NC_000016.9:g.2138287G>A
  • NM_000548.3:c.5220G>A
  • p.(Trp1740*)
Protein change:
W1496*
Links:
Tuberous sclerosis database (TSC2): TSC2_00299; dbSNP: rs45517411
NCBI 1000 Genomes Browser:
rs45517411
Molecular consequence:
  • NM_000548.5:c.5220G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001077183.3:c.5019G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001114382.3:c.5151G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001318827.2:c.4911G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001318829.2:c.4875G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001318831.2:c.4488G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001318832.2:c.5052G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001363528.2:c.5022G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370404.1:c.5088G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370405.1:c.5079G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_021055.3:c.5091G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000066417Tuberous 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

SNP identification, haplotype analysis, and parental origin of mutations in TSC2.

Roberts PS, Chung J, Jozwiak S, Dabora SL, Franz DN, Thiele EA, Kwiatkowski DJ.

Hum Genet. 2002 Jul;111(1):96-101. Epub 2002 Jun 7.

PubMed [citation]
PMID:
12136241

Details of each submission

From Tuberous sclerosis database (TSC2), SCV000066417.3

#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