NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs) AND Tuberous sclerosis syndrome

Germline classification:: not provided (2 submissions)
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:: RCV000042222.4

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:: Tuberous sclerosis syndrome (TSC)
Synonyms:: Tuberous sclerosis
Identifiers:: MONDO: MONDO:0001734; MedGen: C0041341; OMIM: PS191100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000066007	Tuberous sclerosis database (TSC1)	no classification provided (Tuberous Sclerosis Database Assertion Criteria 2015)	not provided	germline	curation	PubMed (5) [See all records that cite these PMIDs] 10227394, 10363127, 11112665, 12015165, 9924605 Yates, 1998, Unpublished, Citation Link,
SCV000066008	Tuberous sclerosis database (TSC1)	no classification provided (Tuberous Sclerosis Database Assertion Criteria 2015)	not provided	germline	curation	PubMed (4) [See all records that cite these PMIDs] 14756965, 15798777, 17304050, 18032745 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000066007

Tuberous sclerosis database (TSC1)

no classification provided

(Tuberous Sclerosis Database Assertion Criteria 2015)

not provided

germline

curation

PubMed (5)
[See all records that cite these PMIDs]

Yates, 1998, Unpublished,

Citation Link,

SCV000066008

Tuberous sclerosis database (TSC1)

no classification provided

(Tuberous Sclerosis Database Assertion Criteria 2015)

not provided

germline

curation

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	12	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.

van Slegtenhorst M, Verhoef S, Tempelaars A, Bakker L, Wang Q, Wessels M, Bakker R, Nellist M, Lindhout D, Halley D, van den Ouweland A.

J Med Genet. 1999 Apr;36(4):285-9.

PubMed [citation]

PMID:: 10227394
PMCID:: PMC1734341

Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.

Dabora SL, Sigalas I, Hall F, Eng C, Vijg J, Kwiatkowski DJ.

Ann Hum Genet. 1998 Nov;62(Pt 6):491-504.

PubMed [citation]

PMID:: 10363127

See all PubMed Citations (9)

Details of each submission

From Tuberous sclerosis database (TSC1), SCV000066007.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (5)

#	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		not provided	not provided	not provided	not provided

From Tuberous sclerosis database (TSC1), SCV000066008.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (4)

Description

Definite TSC

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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