NM_000548.5(TSC2):c.21del (p.Asp8fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 23, 2019
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:: RCV001008915.3

Allele description [Variation Report for NM_000548.5(TSC2):c.21del (p.Asp8fs)]

NM_000548.5(TSC2):c.21del (p.Asp8fs)

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.21del (p.Asp8fs)

HGVS:

NC_000016.10:g.2048636del
NG_005895.1:g.4331del
NG_008412.1:g.4233del
NM_000548.5:c.21delMANE SELECT
NM_001077183.3:c.21del
NM_001114382.3:c.21del
NM_001318827.2:c.21del
NM_001318829.2:c.-10+571del
NM_001318831.2:c.-206del
NM_001318832.2:c.54del
NM_001363528.2:c.21del
NM_001370404.1:c.21del
NM_001370405.1:c.21del
NM_021055.3:c.21del
NP_000539.2:p.Asp8fs
NP_001070651.1:p.Asp8fs
NP_001107854.1:p.Asp8fs
NP_001305756.1:p.Asp8fs
NP_001305761.1:p.Asp19fs
NP_001350457.1:p.Asp8fs
NP_001357333.1:p.Asp8fs
NP_001357334.1:p.Asp8fs
NP_066399.2:p.Asp8fs
LRG_487t1:c.21del
LRG_1366:g.4233del
LRG_487:g.4331del
NC_000016.9:g.2098637del
NM_000548.3:c.21del
NM_000548.3:c.21delA
p.(Asp8Ilefs*4)

Protein change:

D19fs

Links:

Tuberous sclerosis database (TSC2): TSC2_01083; dbSNP: rs137854019

NCBI 1000 Genomes Browser:

rs137854019

Molecular consequence:

NM_001318831.2:c.-206del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000548.5:c.21del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001077183.3:c.21del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001114382.3:c.21del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001318827.2:c.21del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001318832.2:c.54del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001363528.2:c.21del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370404.1:c.21del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370405.1:c.21del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_021055.3:c.21del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001318829.2:c.-10+571del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001168721	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Oct 23, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001168721

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Oct 23, 2019)

germline

clinical testing

Citation Link

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 GeneDx, SCV001168721.3

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

#	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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