NM_000368.5(TSC1):c.2524C>T (p.Gln842Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 7, 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:: RCV000760377.1

Allele description [Variation Report for NM_000368.5(TSC1):c.2524C>T (p.Gln842Ter)]

NM_000368.5(TSC1):c.2524C>T (p.Gln842Ter)

Gene:

TSC1:TSC complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

Preferred name:

NM_000368.5(TSC1):c.2524C>T (p.Gln842Ter)

HGVS:

NC_000009.12:g.132900816G>A
NG_012386.1:g.48818C>T
NM_000368.5:c.2524C>TMANE SELECT
NM_001162426.2:c.2521C>T
NM_001162427.2:c.2371C>T
NM_001362177.2:c.2161C>T
NP_000359.1:p.Gln842Ter
NP_000359.1:p.Gln842Ter
NP_001155898.1:p.Gln841Ter
NP_001155899.1:p.Gln791Ter
NP_001349106.1:p.Gln721Ter
LRG_486t1:c.2524C>T
LRG_486:g.48818C>T
LRG_486p1:p.Gln842Ter
NC_000009.11:g.135776203G>A
NM_000368.4:c.2524C>T

Protein change:

Q721*

Links:

dbSNP: rs1447417010

NCBI 1000 Genomes Browser:

rs1447417010

Molecular consequence:

NM_000368.5:c.2524C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001162426.2:c.2521C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001162427.2:c.2371C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001362177.2:c.2161C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000890240	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Aug 7, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000890240

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Aug 7, 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, SCV000890240.1

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

Description

The Q842X nonsense variant in the TSC1 gene has been reported previously in a family with multiple generations of TSC (KÃ¶vesdi et al., 2013). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Additionally, the Q842X variant is not observed in large population cohorts (Lek et al., 2016). Therefore, the presence of Q842X is consistent with the diagnosis of TSC in this individual.

#	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: Apr 20, 2024

ClinVar

Relating variation to medicine