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NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000488416.9

Allele description [Variation Report for NM_007194.4(CHEK2):c.1100del (p.Thr367fs)]

NM_007194.4(CHEK2):c.1100del (p.Thr367fs)

Gene:
CHEK2:checkpoint kinase 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q12.1
Genomic location:
Preferred name:
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
Other names:
NP_009125.1:p.Thr367MetfsTer15
HGVS:
  • NC_000022.11:g.28695869del
  • NG_008150.2:g.50998del
  • NM_001005735.2:c.1229del
  • NM_001257387.2:c.437del
  • NM_001349956.2:c.899del
  • NM_007194.4:c.1100delMANE SELECT
  • NM_145862.2:c.1013del
  • NP_001005735.1:p.Thr410fs
  • NP_001244316.1:p.Thr146fs
  • NP_001336885.1:p.Thr300fs
  • NP_009125.1:p.Thr367fs
  • NP_665861.1:p.Thr338fs
  • LRG_302t1:c.1100del
  • LRG_302:g.50998del
  • LRG_302p1:p.Thr367fs
  • NC_000022.10:g.29091857del
  • NC_000022.10:g.29091857delG
  • NG_008150.1:g.50966del
  • NM_001005735.1:c.1229del
  • NM_001005735.1:c.1229delC
  • NM_001005735.2:c.1229delC
  • NM_007194.3:c.1100delC
  • NM_007194.4:c.1100delCMANE SELECT
  • c.1100delC
  • p.T367MFS*15
  • p.T367MfsX15
  • p.Thr367Metfs*15
  • p.Thr367MetfsX15
  • p.Thr367fs
  • p.Thr410fs
Protein change:
T146fs
Links:
OMIM: 604373.0001; dbSNP: rs555607708
NCBI 1000 Genomes Browser:
rs555607708
Molecular consequence:
  • NM_001005735.2:c.1229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257387.2:c.437del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001349956.2:c.899del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007194.4:c.1100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_145862.2:c.1013del - frameshift variant - [Sequence Ontology: SO:0001589]
Functional consequence:
Uncertain function
Observations:
1

Condition(s)

Name:
Breast neoplasm
Synonyms:
Neoplasm of breast; Breast tumor; Neoplasm of the breast; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0021100; MeSH: D001943; MedGen: C1458155; Human Phenotype Ontology: HP:0100013
Name:
Leiomyosarcoma
Identifiers:
MONDO: MONDO:0005058; MedGen: C0023269; Human Phenotype Ontology: HP:0100243

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000574565Genome Sciences Centre, British Columbia Cancer Agency
no assertion criteria provided
Pathogenicgermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma.

Thibodeau ML, Reisle C, Zhao E, Martin LA, Alwelaie Y, Mungall KL, Ch'ng C, Thomas R, Ng T, Yip S, J Lim H, Sun S, Young SS, Karsan A, Zhao Y, Mungall AJ, Moore RA, J Renouf D, Gelmon K, Ma YP, Hayes M, Laskin J, et al.

Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5). doi:pii: a001628. 10.1101/mcs.a001628. Print 2017 Sep. Erratum in: Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4):a003327. doi: 10.1101/mcs.a003327.

PubMed [citation]
PMID:
28514723
PMCID:
PMC5593158

Details of each submission

From Genome Sciences Centre, British Columbia Cancer Agency, SCV000574565.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

Positive family history of early breast cancer (niece diagnosed at age 35). Whole genome sequencing (blood and tumor) and whole transcriptome sequencing (tumor) also revealed the germline CHEK2:c.1100delC pathogenic variant, which is considered a moderate penetrance allele for breast cancer.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024