NM_000368.5(TSC1):c.2593C>T (p.Gln865Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 6, 2021
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:: RCV002429196.2

Allele description [Variation Report for NM_000368.5(TSC1):c.2593C>T (p.Gln865Ter)]

NM_000368.5(TSC1):c.2593C>T (p.Gln865Ter)

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.2593C>T (p.Gln865Ter)

HGVS:

NC_000009.12:g.132900747G>A
NG_012386.1:g.48887C>T
NM_000368.5:c.2593C>TMANE SELECT
NM_001162426.2:c.2590C>T
NM_001162427.2:c.2440C>T
NM_001362177.2:c.2230C>T
NP_000359.1:p.Gln865Ter
NP_000359.1:p.Gln865Ter
NP_001155898.1:p.Gln864Ter
NP_001155899.1:p.Gln814Ter
NP_001349106.1:p.Gln744Ter
LRG_486t1:c.2593C>T
LRG_486:g.48887C>T
LRG_486p1:p.Gln865Ter
NC_000009.11:g.135776134G>A
NM_000368.4:c.2593C>T

Protein change:

Q744*

Links:

dbSNP: rs886039662

NCBI 1000 Genomes Browser:

rs886039662

Molecular consequence:

NM_000368.5:c.2593C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001162426.2:c.2590C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001162427.2:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001362177.2:c.2230C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002743222	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Oct 6, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002743222

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Oct 6, 2021)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002743222.2

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

Description

The p.Q865* pathogenic mutation (also known as c.2593C>T), located in coding exon 18 of the TSC1 gene, results from a C to T substitution at nucleotide position 2593. This changes the amino acid from a glutamine to a stop codon within coding exon 18. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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