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NM_000368.5(TSC1):c.1324A>T (p.Arg442Ter) AND Tuberous sclerosis 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 21, 2019
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:
RCV001328534.3

Allele description [Variation Report for NM_000368.5(TSC1):c.1324A>T (p.Arg442Ter)]

NM_000368.5(TSC1):c.1324A>T (p.Arg442Ter)

Gene:
TSC1:TSC complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.13
Genomic location:
Preferred name:
NM_000368.5(TSC1):c.1324A>T (p.Arg442Ter)
HGVS:
  • NC_000009.12:g.132907310T>A
  • NG_012386.1:g.42324A>T
  • NM_000368.5:c.1324A>TMANE SELECT
  • NM_001162426.2:c.1321A>T
  • NM_001162427.2:c.1171A>T
  • NM_001362177.2:c.961A>T
  • NP_000359.1:p.Arg442Ter
  • NP_001155898.1:p.Arg441Ter
  • NP_001155899.1:p.Arg391Ter
  • NP_001349106.1:p.Arg321Ter
  • LRG_486:g.42324A>T
  • NC_000009.11:g.135782697T>A
Protein change:
R321*
Links:
dbSNP: rs1845724649
NCBI 1000 Genomes Browser:
rs1845724649
Molecular consequence:
  • NM_000368.5:c.1324A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001162426.2:c.1321A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001162427.2:c.1171A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001362177.2:c.961A>T - nonsense - [Sequence Ontology: SO:0001587]
Functional consequence:
termination codon change [Variation Ontology: 0309]
Observations:
1

Condition(s)

Name:
Tuberous sclerosis 1 (TSC1)
Identifiers:
MONDO: MONDO:0008612; MedGen: C1854465; Orphanet: 805; OMIM: 191100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001519657HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP)
no assertion criteria provided
Likely pathogenic
(Jan 21, 2019) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
caucasiangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP), SCV001519657.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1caucasian1not providednot providedclinical testingnot provided

Description

The c.1324A>T variant in the TSC1 gene (NM_000368.5) causes a premature stop codon. This alteration has not been reported previously in literature and it is not detected in general population. Pathological variants in the TSC1 gene are related to Tuberous Sclerosis-1 (OMIM:191100), with an autosomal dominant mode of inheritance . Therefore, we consider that the clinical significance of c.104_105delCG variant is likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024