NM_000548.5(TSC2):c.4603_4605del (p.Asp1535del) 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:: RCV000043285.3

Allele description [Variation Report for NM_000548.5(TSC2):c.4603_4605del (p.Asp1535del)]

NM_000548.5(TSC2):c.4603_4605del (p.Asp1535del)

Gene:

TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000548.5(TSC2):c.4603_4605del (p.Asp1535del)

HGVS:

NC_000016.10:g.2085263_2085265del
NG_005895.1:g.40958_40960del
NM_000548.5:c.4603_4605delMANE SELECT
NM_001077183.3:c.4402_4404del
NM_001114382.3:c.4534_4536del
NM_001318827.2:c.4294_4296del
NM_001318829.2:c.4258_4260del
NM_001318831.2:c.3871_3873del
NM_001318832.2:c.4435_4437del
NM_001363528.2:c.4405_4407del
NM_001370404.1:c.4471_4473del
NM_001370405.1:c.4474_4476del
NM_021055.3:c.4474_4476del
NP_000539.2:p.Asp1535del
NP_001070651.1:p.Asp1468del
NP_001107854.1:p.Asp1512del
NP_001305756.1:p.Asp1432del
NP_001305758.1:p.Asp1420del
NP_001305760.1:p.Asp1291del
NP_001305761.1:p.Asp1479del
NP_001350457.1:p.Asp1469del
NP_001357333.1:p.Asp1491del
NP_001357334.1:p.Asp1492del
NP_066399.2:p.Asp1492del
LRG_487:g.40958_40960del
NC_000016.9:g.2135264_2135266del
p.(Asp1535del)

Protein change:

D1291del

Links:

Tuberous sclerosis database (TSC2): TSC2_00786; dbSNP: rs137854401

NCBI 1000 Genomes Browser:

rs137854401

Molecular consequence:

NM_000548.5:c.4603_4605del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001077183.3:c.4402_4404del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001114382.3:c.4534_4536del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001318827.2:c.4294_4296del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001318829.2:c.4258_4260del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001318831.2:c.3871_3873del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001318832.2:c.4435_4437del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001363528.2:c.4405_4407del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001370404.1:c.4471_4473del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001370405.1:c.4474_4476del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_021055.3:c.4474_4476del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000067087	Tuberous sclerosis database (TSC2)	no classification provided (Tuberous Sclerosis Database Assertion Criteria 2015)	not provided	germline	curation	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000067087

Tuberous sclerosis database (TSC2)

no classification provided

(Tuberous Sclerosis Database Assertion Criteria 2015)

not provided

germline

curation

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

Hung CC, Su YN, Chien SC, Liou HH, Chen CC, Chen PC, Hsieh CJ, Chen CP, Lee WT, Lin WL, Lee CN.

BMC Med Genet. 2006 Sep 18;7:72.

PubMed [citation]

PMID:: 16981987
PMCID:: PMC1592085

Details of each submission

From Tuberous sclerosis database (TSC2), SCV000067087.3

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

#	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: Jun 2, 2024

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