Single allele AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Jan 26, 2018)
Review status:1 star out of maximum of 4 stars
criteria provided, single submitter

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Based on:: 1 submission [Details]
Record status:: current
Accession:: RCV000850068.1

Allele description [Variation Report for Single allele]

Gene:: TSC1:TSC complex subunit 1 [Gene - OMIM - HGNC]
Variant type:: Tandem duplication
Cytogenetic location:: 9q34.13
Genomic location:: Chr9: 135803187 - 135807265 (on Assembly GRCh37)

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
SCV000992234	Academic Department of Medical Genetics, University of Cambridge	criteria provided, single submitter Whitworth J et al. (Am J Hum Genet 2018)	Uncertain significance (Jan 26, 2018)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000992234

Academic Department of Medical Genetics, University of Cambridge

criteria provided, single submitter

Whitworth J et al. (Am J Hum Genet 2018)

Uncertain significance
(Jan 26, 2018)

germline

research

PubMed (1)
[See all records that cite this PMID]

Description

Identified as part of research study of individuals with multiple primary tumours referred for genetic assessment: SCV000992234

Summary from all submissions

Help

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	research

Citations

PubMed

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

Whitworth J, Smith PS, Martin JE, West H, Luchetti A, Rodger F, Clark G, Carss K, Stephens J, Stirrups K, Penkett C, Mapeta R, Ashford S, Megy K, Shakeel H, Ahmed M, Adlard J, Barwell J, Brewer C, Casey RT, Armstrong R, Cole T, et al.

Am J Hum Genet. 2018 Jul 5;103(1):3-18. doi: 10.1016/j.ajhg.2018.04.013. Epub 2018 Jun 14.

PubMed [citation]

PMID:: 29909963
PMCID:: PMC6037202

Details of each submission

From Academic Department of Medical Genetics, University of Cambridge, SCV000992234.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)

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

Last Updated: Nov 5, 2022

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