NM_000368.5(TSC1):c.989dup (p.Ser331fs) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 14, 2016
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:: RCV000189866.2

Allele description

NM_000368.5(TSC1):c.989dup (p.Ser331fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

9q34.13

Genomic location:

Preferred name:

NM_000368.5(TSC1):c.989dup (p.Ser331fs)

HGVS:

NC_000009.12:g.132911493dup
NG_012386.1:g.38141dup
NM_000368.5:c.989dupMANE SELECT
NM_001162426.2:c.989dup
NM_001162427.2:c.836dup
NM_001362177.2:c.626dup
NP_000359.1:p.Ser331fs
NP_001155898.1:p.Ser331fs
NP_001155899.1:p.Ser280fs
NP_001349106.1:p.Ser210fs
LRG_486:g.38141dup
NC_000009.11:g.135786879_135786880insA
NC_000009.11:g.135786880dup
NM_000368.3:c.989dupT
NM_000368.4:c.989dupT
p.S331EfsX10
p.(Ser331Glufs*10)

Protein change:

S210fs

Links:

Tuberous sclerosis database (TSC1): TSC1_00067; dbSNP: rs118203478

NCBI 1000 Genomes Browser:

rs118203478

Molecular consequence:

NM_000368.5:c.989dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001162426.2:c.989dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001162427.2:c.836dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001362177.2:c.626dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:: MedGen: CN517202

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
SCV000243519	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Dec 14, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000243519

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Dec 14, 2016)

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, SCV000243519.6

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

Description

The c.989dupT nonsense variant in the TSC1 gene has been reported multiple times previously inassociation with TSC (van Slegtenhorst, et al., 1999 using alternative nomenclature 1210insT; TSC1LOVD). The duplication causes a frameshift starting with codon Serine 331, changes this amino acidto a Glutamic acid residue and creates a premature Stop codon at position 10 of the new reading frame,denoted p.Ser331GlufsX10. This pathogenic variant is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay.

#	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: May 10, 2021

ClinVar

Relating variation to medicine