NC_000022.10:g.(?_29081001)_29140000del AND Familial cancer of breast

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 16, 2018
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:: RCV001388034.5

Allele description [Variation Report for NC_000022.10:g.(?_29081001)_29140000del]

NC_000022.10:g.(?_29081001)_29140000del

Gene:

CHEK2:checkpoint kinase 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Preferred name:

NC_000022.10:g.(?_29081001)_29140000del

HGVS:

NC_000022.10:g.(?_29081001)_29140000del
NC_000022.10:g.(?_29081001)_29140000del
NC_000022.10:g.(?_29081001_29140000del

Condition(s)

Name:: Familial cancer of breast
Synonyms:: Breast cancer, familial; Hereditary breast cancer
Identifiers:: MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

Recent activity

Clear Turn Off Turn On

PREDICTED: Microcaecilia unicolor amylo-alpha-1, 6-glucosidase, 4-alpha-glucanot...
PREDICTED: Microcaecilia unicolor amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant X1, mRNA
gi|1717022707|ref|XM_030207629.1|

Nucleotide
Torulaspora delbrueckii hypothetical protein (TDEL0A00430), partial mRNA
Torulaspora delbrueckii hypothetical protein (TDEL0A00430), partial mRNA
gi|367008171|ref|XM_003678538.1|

Nucleotide
Shoulder Fractures
Shoulder Fractures
Fractures of the proximal humerus, including the head, anatomic and surgical necks, and tuberosities.<br/>

MeSH
Ankle Injuries
Ankle Injuries
Harm or hurt to the ankle or ankle joint usually inflicted by an external source.<br/>Year introduced: 1992

MeSH
Hand Injuries
Hand Injuries
General or unspecified injuries to the hand.<br/>

MeSH

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
SCV001588842	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 16, 2018)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 16551709, 24763289, 17085682, 21876083, 24713400, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001588842

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 16, 2018)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

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

Citations

PubMed

Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer.

Walsh T, Casadei S, Coats KH, Swisher E, Stray SM, Higgins J, Roach KC, Mandell J, Lee MK, Ciernikova S, Foretova L, Soucek P, King MC.

JAMA. 2006 Mar 22;295(12):1379-88.

PubMed [citation]

PMID:: 16551709

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

LaDuca H, Stuenkel AJ, Dolinsky JS, Keiles S, Tandy S, Pesaran T, Chen E, Gau CL, Palmaer E, Shoaepour K, Shah D, Speare V, Gandomi S, Chao E.

Genet Med. 2014 Nov;16(11):830-7. doi: 10.1038/gim.2014.40. Epub 2014 Apr 24.

PubMed [citation]

PMID:: 24763289
PMCID:: PMC4225457

See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001588842.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

A gross deletion of the genomic region encompassing the full coding sequence of the CHEK2 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this variant has not been reported in the literature in individuals with CHEK2-related disease, similar loss of the entire CHEK2 coding sequence has been observed in several individuals affected with breast cancer (Invitae). Sub-genic deletions of CHEK2 have been reported in affected patients and are known to be pathogenic (PMID:¬†16551709, 24763289, 17085682).¬†Therefore, deletions that fully encompass these regions are also expected to be pathogenic. Loss-of-function variants in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). For these reasons, this variant has been classified as Pathogenic.

#	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

ClinVar

Relating variation to medicine