NM_000368.5(TSC1):c.664-2A>G AND Tuberous sclerosis 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 9, 2020
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:: RCV001199395.1

Allele description [Variation Report for NM_000368.5(TSC1):c.664-2A>G]

NM_000368.5(TSC1):c.664-2A>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.664-2A>G

HGVS:

NC_000009.12:g.132921438T>C
NG_012386.1:g.28196A>G
NM_000368.5:c.664-2A>GMANE SELECT
NM_001162426.2:c.664-2A>G
NM_001162427.2:c.511-2A>G
NM_001362177.2:c.301-2A>G
NM_001406592.1:c.664-2A>G
NM_001406593.1:c.664-2A>G
NM_001406594.1:c.664-2A>G
NM_001406595.1:c.664-2A>G
NM_001406596.1:c.664-2A>G
NM_001406597.1:c.664-2A>G
NM_001406598.1:c.664-2A>G
NM_001406599.1:c.664-2A>G
NM_001406600.1:c.664-2A>G
NM_001406601.1:c.664-2A>G
NM_001406602.1:c.664-2A>G
NM_001406603.1:c.664-2A>G
NM_001406604.1:c.664-2A>G
NM_001406605.1:c.664-2A>G
NM_001406606.1:c.664-2A>G
NM_001406607.1:c.664-2A>G
NM_001406608.1:c.664-2A>G
NM_001406609.1:c.664-2A>G
NM_001406610.1:c.511-2A>G
NM_001406611.1:c.511-2A>G
NM_001406612.1:c.511-2A>G
NM_001406613.1:c.511-2A>G
NM_001406614.1:c.301-2A>G
NM_001406615.1:c.301-2A>G
NM_001406616.1:c.301-2A>G
NM_001406617.1:c.301-2A>G
NM_001406618.1:c.301-2A>G
NM_001406619.1:c.301-2A>G
NM_001406620.1:c.301-2A>G
NM_001406621.1:c.301-2A>G
NM_001406622.1:c.301-2A>G
NM_001406623.1:c.301-2A>G
NM_001406624.1:c.301-2A>G
NM_001406625.1:c.301-2A>G
NM_001406626.1:c.-215+381A>G
NM_001406627.1:c.-215+381A>G
NM_001406628.1:c.-215+381A>G
NM_001406629.1:c.-357+381A>G
NM_001406630.1:c.-430-2A>G
LRG_486:g.28196A>G
NC_000009.11:g.135796825T>C

Links:

dbSNP: rs1846550204

NCBI 1000 Genomes Browser:

rs1846550204

Molecular consequence:

NM_001406626.1:c.-215+381A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001406627.1:c.-215+381A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001406628.1:c.-215+381A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001406629.1:c.-357+381A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000368.5:c.664-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001162426.2:c.664-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001162427.2:c.511-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001362177.2:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406592.1:c.664-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406593.1:c.664-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406594.1:c.664-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406595.1:c.664-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406596.1:c.664-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406597.1:c.664-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406598.1:c.664-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406599.1:c.664-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406600.1:c.664-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406601.1:c.664-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406602.1:c.664-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406603.1:c.664-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406604.1:c.664-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406605.1:c.664-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406606.1:c.664-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406607.1:c.664-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406608.1:c.664-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406609.1:c.664-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406610.1:c.511-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406611.1:c.511-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406612.1:c.511-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406613.1:c.511-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406614.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406615.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406616.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406617.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406618.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406619.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406620.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406621.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406622.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406623.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406624.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406625.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406630.1:c.-430-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001370512	Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University	no assertion criteria provided	Pathogenic (Jun 9, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001370512

Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University

no assertion criteria provided

Pathogenic
(Jun 9, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Japanese	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, SCV001370512.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Japanese	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jun 10, 2023

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