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NM_000368.5(TSC1):c.738-2A>G 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:
RCV000042351.3

Allele description [Variation Report for NM_000368.5(TSC1):c.738-2A>G]

NM_000368.5(TSC1):c.738-2A>G

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.738-2A>G
HGVS:
  • NC_000009.12:g.132912459T>C
  • NG_012386.1:g.37175A>G
  • NM_000368.5:c.738-2A>GMANE SELECT
  • NM_001162426.2:c.738-2A>G
  • NM_001162427.2:c.585-2A>G
  • NM_001362177.2:c.375-2A>G
  • NM_001406592.1:c.738-2A>G
  • NM_001406593.1:c.738-2A>G
  • NM_001406594.1:c.738-2A>G
  • NM_001406595.1:c.738-2A>G
  • NM_001406596.1:c.738-2A>G
  • NM_001406597.1:c.738-2A>G
  • NM_001406598.1:c.738-2A>G
  • NM_001406599.1:c.738-2A>G
  • NM_001406600.1:c.738-2A>G
  • NM_001406601.1:c.738-2A>G
  • NM_001406602.1:c.738-2A>G
  • NM_001406603.1:c.738-2A>G
  • NM_001406604.1:c.738-2A>G
  • NM_001406605.1:c.738-2A>G
  • NM_001406606.1:c.738-2A>G
  • NM_001406607.1:c.738-2A>G
  • NM_001406608.1:c.738-2A>G
  • NM_001406609.1:c.738-2A>G
  • NM_001406610.1:c.585-2A>G
  • NM_001406611.1:c.585-2A>G
  • NM_001406612.1:c.585-2A>G
  • NM_001406613.1:c.585-2A>G
  • NM_001406614.1:c.375-2A>G
  • NM_001406615.1:c.375-2A>G
  • NM_001406616.1:c.375-2A>G
  • NM_001406617.1:c.375-2A>G
  • NM_001406618.1:c.375-2A>G
  • NM_001406619.1:c.375-2A>G
  • NM_001406620.1:c.375-2A>G
  • NM_001406621.1:c.375-2A>G
  • NM_001406622.1:c.375-2A>G
  • NM_001406623.1:c.375-2A>G
  • NM_001406624.1:c.375-2A>G
  • NM_001406625.1:c.375-2A>G
  • NM_001406626.1:c.-214-2A>G
  • NM_001406627.1:c.-214-2A>G
  • NM_001406628.1:c.-214-2A>G
  • NM_001406629.1:c.-356-2A>G
  • NM_001406630.1:c.-356-2A>G
  • LRG_486t1:c.738-2A>G
  • LRG_486:g.37175A>G
  • NC_000009.11:g.135787846T>C
  • NM_000368.3:c.738-2A>G
  • NM_000368.4:c.738-2A>G
  • p.(?)
Links:
Tuberous sclerosis database (TSC1): TSC1_00418; dbSNP: rs118203440
NCBI 1000 Genomes Browser:
rs118203440
Molecular consequence:
  • NM_000368.5:c.738-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001162426.2:c.738-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001162427.2:c.585-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001362177.2:c.375-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406592.1:c.738-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406593.1:c.738-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406594.1:c.738-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406595.1:c.738-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406596.1:c.738-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406597.1:c.738-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406598.1:c.738-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406599.1:c.738-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406600.1:c.738-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406601.1:c.738-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406602.1:c.738-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406603.1:c.738-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406604.1:c.738-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406605.1:c.738-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406606.1:c.738-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406607.1:c.738-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406608.1:c.738-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406609.1:c.738-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406610.1:c.585-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406611.1:c.585-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406612.1:c.585-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406613.1:c.585-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406614.1:c.375-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406615.1:c.375-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406616.1:c.375-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406617.1:c.375-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406618.1:c.375-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406619.1:c.375-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406620.1:c.375-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406621.1:c.375-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406622.1:c.375-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406623.1:c.375-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406624.1:c.375-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406625.1:c.375-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406626.1:c.-214-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406627.1:c.-214-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406628.1:c.-214-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406629.1:c.-356-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406630.1:c.-356-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV000066140Tuberous sclerosis database (TSC1)
no classification provided

(Tuberous Sclerosis Database Assertion Criteria 2015)		not providedgermlinecuration

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedcuration

Citations

PubMed

TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex.

Muzykewicz DA, Sharma A, Muse V, Numis AL, Rajagopal J, Thiele EA.

J Med Genet. 2009 Jul;46(7):465-8. doi: 10.1136/jmg.2008.065342. Epub 2009 May 5.

PubMed [citation]
PMID:
19419980

Details of each submission

From Tuberous sclerosis database (TSC1), SCV000066140.3

#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: Sep 29, 2024