NM_000368.4(TSC1):c.-234-1616_-234-235del1382 AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 7, 2023
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:: RCV002445304.9

Allele description [Variation Report for NM_000368.4(TSC1):c.-234-1616_-234-235del1382]

NM_000368.4(TSC1):c.-234-1616_-234-235del1382

Genes:

TSC1:TSC complex subunit 1 [Gene - OMIM - HGNC]
GFI1B:growth factor independent 1B transcriptional repressor [Gene - OMIM - HGNC]
MIR548AW:microRNA 548aw [Gene - HGNC]

Variant type:

Deletion

Cytogenetic location:

9q34.13

Genomic location:

Preferred name:

NM_000368.4(TSC1):c.-234-1616_-234-235del1382

HGVS:

NC_000009.12:g.132944870_132946251del
NG_012386.1:g.3385_4766del
NG_034227.1:g.4326_5707del
NG_117955.1:g.483_934del
NG_117955.2:g.483_1046del
LRG_486t1:c.-234-1616_-234-235del1382
LRG_486:g.3385_4766del
LRG_879:g.4326_5707del
NC_000009.11:g.135820255_135821636del
NC_000009.11:g.135820257_135821638del
NM_000368.4:c.-234-1616_-234-235del1382

Links:

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
SCV002732611	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 7, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002732611

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 7, 2023)

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, SCV002732611.2

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

Description

The c.-234-1616_-234-235del1382 gross deletion is located in the 5' untranslated region (5'UTR) of the TSC1 gene; however the exact functional significance is unknown at this time. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Nov 3, 2024

ClinVar

Relating variation to medicine