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NM_000548.5(TSC2):c.3623G>A (p.Trp1208Ter) 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:
RCV000055176.2

Allele description [Variation Report for NM_000548.5(TSC2):c.3623G>A (p.Trp1208Ter)]

NM_000548.5(TSC2):c.3623G>A (p.Trp1208Ter)

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.3623G>A (p.Trp1208Ter)
HGVS:
  • NC_000016.10:g.2081607G>A
  • NG_005895.1:g.37302G>A
  • NM_000548.5:c.3623G>AMANE SELECT
  • NM_001077183.3:c.3491G>A
  • NM_001114382.3:c.3623G>A
  • NM_001318827.2:c.3383G>A
  • NM_001318829.2:c.3347G>A
  • NM_001318831.2:c.2891G>A
  • NM_001318832.2:c.3524G>A
  • NM_001363528.2:c.3494G>A
  • NM_001370404.1:c.3491G>A
  • NM_001370405.1:c.3494G>A
  • NM_021055.3:c.3494G>A
  • NP_000539.2:p.Trp1208Ter
  • NP_001070651.1:p.Trp1164Ter
  • NP_001107854.1:p.Trp1208Ter
  • NP_001305756.1:p.Trp1128Ter
  • NP_001305758.1:p.Trp1116Ter
  • NP_001305760.1:p.Trp964Ter
  • NP_001305761.1:p.Trp1175Ter
  • NP_001350457.1:p.Trp1165Ter
  • NP_001357333.1:p.Trp1164Ter
  • NP_001357334.1:p.Trp1165Ter
  • NP_066399.2:p.Trp1165Ter
  • LRG_487t1:c.3623G>A
  • LRG_487:g.37302G>A
  • NC_000016.9:g.2131608G>A
  • NM_000548.3:c.3623G>A
  • p.(Trp1208*)
Protein change:
W1116*
Links:
Tuberous sclerosis database (TSC2): TSC2_02244; dbSNP: rs397514979
NCBI 1000 Genomes Browser:
rs397514979
Molecular consequence:
  • NM_000548.5:c.3623G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001077183.3:c.3491G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001114382.3:c.3623G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001318827.2:c.3383G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001318829.2:c.3347G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001318831.2:c.2891G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001318832.2:c.3524G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001363528.2:c.3494G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370404.1:c.3491G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370405.1:c.3494G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_021055.3:c.3494G>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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000083394Tuberous sclerosis database (TSC2)
no classification provided

(Tuberous Sclerosis Database Assertion Criteria 2015)		not providedgermlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedcuration

Details of each submission

From Tuberous sclerosis database (TSC2), SCV000083394.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 5, 2024