NM_000548.5(TSC2):c.4174C>T (p.Gln1392Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 18, 2018
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:: RCV000760365.1

Allele description [Variation Report for NM_000548.5(TSC2):c.4174C>T (p.Gln1392Ter)]

NM_000548.5(TSC2):c.4174C>T (p.Gln1392Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000548.5(TSC2):c.4174C>T (p.Gln1392Ter)

HGVS:

NC_000016.10:g.2084396C>T
NG_005895.1:g.40091C>T
NM_000548.5:c.4174C>TMANE SELECT
NM_001077183.3:c.3973C>T
NM_001114382.3:c.4105C>T
NM_001318827.2:c.3865C>T
NM_001318829.2:c.3829C>T
NM_001318831.2:c.3442C>T
NM_001318832.2:c.4006C>T
NM_001363528.2:c.3976C>T
NM_001370404.1:c.4042C>T
NM_001370405.1:c.4045C>T
NM_021055.3:c.4045C>T
NP_000539.2:p.Gln1392Ter
NP_001070651.1:p.Gln1325Ter
NP_001107854.1:p.Gln1369Ter
NP_001305756.1:p.Gln1289Ter
NP_001305758.1:p.Gln1277Ter
NP_001305760.1:p.Gln1148Ter
NP_001305761.1:p.Gln1336Ter
NP_001350457.1:p.Gln1326Ter
NP_001357333.1:p.Gln1348Ter
NP_001357334.1:p.Gln1349Ter
NP_066399.2:p.Gln1349Ter
LRG_487t1:c.4174C>T
LRG_487:g.40091C>T
NC_000016.9:g.2134397C>T
NM_000548.3:c.4174C>T
p.(Gln1392*)

Protein change:

Q1148*

Links:

Tuberous sclerosis database (TSC2): TSC2_00563; dbSNP: rs45517330

NCBI 1000 Genomes Browser:

rs45517330

Molecular consequence:

NM_000548.5:c.4174C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001077183.3:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001114382.3:c.4105C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001318827.2:c.3865C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001318829.2:c.3829C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001318831.2:c.3442C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001318832.2:c.4006C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001363528.2:c.3976C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001370404.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001370405.1:c.4045C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_021055.3:c.4045C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000890227	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Dec 18, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000890227

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Dec 18, 2018)

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, SCV000890227.1

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

Description

The Q1392X nonsense variant in the TSC2 gene has been reported previously in association with tuberous sclerosis complex (TSC) (Martin et al., 2017). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q1392X variant is not observed in large population cohorts (Lek et al., 2016).

#	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: Feb 14, 2024

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