NM_000368.5(TSC1):c.2497dup (p.Gln833fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 3, 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:: RCV001574868.3

Allele description [Variation Report for NM_000368.5(TSC1):c.2497dup (p.Gln833fs)]

NM_000368.5(TSC1):c.2497dup (p.Gln833fs)

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.2497dup (p.Gln833fs)

HGVS:

NC_000009.12:g.132901596dup
NG_012386.1:g.48040dup
NM_000368.5:c.2497dupMANE SELECT
NM_001162426.2:c.2494dup
NM_001162427.2:c.2344dup
NM_001362177.2:c.2134dup
NP_000359.1:p.Gln833fs
NP_001155898.1:p.Gln832fs
NP_001155899.1:p.Gln782fs
NP_001349106.1:p.Gln712fs
LRG_486t1:c.2497dup
LRG_486:g.48040dup
NC_000009.11:g.135776983dup
NM_000368.4:c.2497dupC

Protein change:

Q712fs

Links:

dbSNP: rs2131702709

NCBI 1000 Genomes Browser:

rs2131702709

Molecular consequence:

NM_000368.5:c.2497dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001162426.2:c.2494dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001162427.2:c.2344dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001362177.2:c.2134dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001801753	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jan 3, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001801753

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jan 3, 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, SCV001801753.1

#	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 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: Dec 24, 2023

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