NM_000548.5(TSC2):c.4621_4623del (p.Asp1541del) AND Tuberous sclerosis 2

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 23, 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:: RCV001280903.2

Allele description [Variation Report for NM_000548.5(TSC2):c.4621_4623del (p.Asp1541del)]

NM_000548.5(TSC2):c.4621_4623del (p.Asp1541del)

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.4621_4623del (p.Asp1541del)

HGVS:

NC_000016.10:g.2085281_2085283del
NG_005895.1:g.40976_40978del
NM_000548.5:c.4621_4623delMANE SELECT
NM_001077183.3:c.4420_4422del
NM_001114382.3:c.4552_4554del
NM_001318827.2:c.4312_4314del
NM_001318829.2:c.4276_4278del
NM_001318831.2:c.3889_3891del
NM_001318832.2:c.4453_4455del
NM_001363528.2:c.4423_4425del
NM_001370404.1:c.4489_4491del
NM_001370405.1:c.4492_4494del
NM_021055.3:c.4492_4494del
NP_000539.2:p.Asp1541del
NP_001070651.1:p.Asp1474del
NP_001107854.1:p.Asp1518del
NP_001305756.1:p.Asp1438del
NP_001305758.1:p.Asp1426del
NP_001305760.1:p.Asp1297del
NP_001305761.1:p.Asp1485del
NP_001350457.1:p.Asp1475del
NP_001357333.1:p.Asp1497del
NP_001357334.1:p.Asp1498del
NP_066399.2:p.Asp1498del
LRG_487:g.40976_40978del
NC_000016.9:g.2135282_2135284del
NM_000548.4:c.4621_4623del

Protein change:

D1297del

Links:

dbSNP: rs2090626831

NCBI 1000 Genomes Browser:

rs2090626831

Molecular consequence:

NM_000548.5:c.4621_4623del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001077183.3:c.4420_4422del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001114382.3:c.4552_4554del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001318827.2:c.4312_4314del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001318829.2:c.4276_4278del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001318831.2:c.3889_3891del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001318832.2:c.4453_4455del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001363528.2:c.4423_4425del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001370404.1:c.4489_4491del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001370405.1:c.4492_4494del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_021055.3:c.4492_4494del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Tuberous sclerosis 2 (TSC2)
Identifiers:: MONDO: MONDO:0013199; MedGen: C1860707; Orphanet: 805; OMIM: 613254

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001468249	Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	no assertion criteria provided	Likely pathogenic (Mar 23, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001468249

Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

no assertion criteria provided

Likely pathogenic
(Mar 23, 2020)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare, SCV001468249.1

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

Last Updated: Mar 4, 2023

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