NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 27, 2014
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000415443.2

Allele description [Variation Report for NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs)]

NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs)

Gene:

TSC1:TSC complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9q34.13

Genomic location:

Preferred name:

NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs)

HGVS:

NC_000009.12:g.132900830_132900833del
NG_012386.1:g.48803_48806del
NM_000368.5:c.2509_2512delMANE SELECT
NM_001162426.2:c.2506_2509del
NM_001162427.2:c.2356_2359del
NM_001362177.2:c.2146_2149del
NP_000359.1:p.Asn837fs
NP_001155898.1:p.Asn836fs
NP_001155899.1:p.Asn786fs
NP_001349106.1:p.Asn716fs
LRG_486:g.48803_48806del
NC_000009.11:g.135776215_135776218del
NC_000009.11:g.135776217_135776220del
NM_000368.3:c.2509_2512del
NM_000368.4:c.2509_2512delAACA
NM_000368.5:c.2509_2512del
NM_000368.5:c.2509_2512delAACAMANE SELECT
p.(Asn837Valfs*11)

Protein change:

N716fs

Links:

Tuberous sclerosis database (TSC1): TSC1_00170; Tuberous sclerosis database (TSC1): TSC1_00233; dbSNP: rs118203707

NCBI 1000 Genomes Browser:

rs118203707

Molecular consequence:

NM_000368.5:c.2509_2512del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001162426.2:c.2506_2509del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001162427.2:c.2356_2359del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001362177.2:c.2146_2149del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Seizure
Synonyms:: Seizures
Identifiers:: MedGen: C0036572; Human Phenotype Ontology: HP:0001250

Name:: Multiple renal cysts
Identifiers:: MedGen: C0431718; Human Phenotype Ontology: HP:0005562

Name:: Cortical tubers
Identifiers:: MedGen: C1968959; Human Phenotype Ontology: HP:0009717

Recent activity

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diacylglycerol kinase eta isoform X4 [Rattus norvegicus]
diacylglycerol kinase eta isoform X4 [Rattus norvegicus]
gi|1958682399|ref|XP_038949966.1|

Protein
RecName: Full=Tryptophan 2,3-dioxygenase; Short=TDO; AltName: Full=Protein vermi...
RecName: Full=Tryptophan 2,3-dioxygenase; Short=TDO; AltName: Full=Protein vermilion; AltName: Full=Tryptamin 2,3-dioxygenase; AltName: Full=Tryptophan oxygenase; Short=TO; Short=TRPO; AltName: Full=Tryptophan pyrrolase; AltName: Full=Tryptophanase
gi|221222799|sp|B4JKK1.1|T23O_DROGR

Protein
t(1;22)
t(1;22)

MedGen
BRCA2 Biallelic Inactivation
BRCA2 Biallelic Inactivation

MedGen
t(1;7)(p33;q35)
t(1;7)(p33;q35)

MedGen

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000493038	Centre for Mendelian Genomics, University Medical Centre Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 27, 2014)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000493038

Centre for Mendelian Genomics, University Medical Centre Ljubljana

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 27, 2014)

unknown

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000493038.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Sep 29, 2024

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