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NM_007194.4(CHEK2):c.129del (p.Ser44fs) AND Familial cancer of breast

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 8, 2022
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:
RCV002861745.3

Allele description [Variation Report for NM_007194.4(CHEK2):c.129del (p.Ser44fs)]

NM_007194.4(CHEK2):c.129del (p.Ser44fs)

Gene:
CHEK2:checkpoint kinase 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q12.1
Genomic location:
Preferred name:
NM_007194.4(CHEK2):c.129del (p.Ser44fs)
HGVS:
  • NC_000022.11:g.28734594del
  • NG_008150.2:g.12274del
  • NM_001005735.2:c.129del
  • NM_001257387.2:c.-649del
  • NM_001349956.2:c.129del
  • NM_007194.4:c.129delMANE SELECT
  • NM_145862.2:c.129del
  • NP_001005735.1:p.Ser44fs
  • NP_001336885.1:p.Ser44fs
  • NP_009125.1:p.Ser44fs
  • NP_665861.1:p.Ser44fs
  • LRG_302t1:c.129del
  • LRG_302:g.12274del
  • LRG_302p1:p.Ser44fs
  • NC_000022.10:g.29130581del
  • NC_000022.10:g.29130582del
Protein change:
S44fs
Molecular consequence:
  • NM_001257387.2:c.-649del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001005735.2:c.129del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001349956.2:c.129del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007194.4:c.129del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_145862.2:c.129del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003212569Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 8, 2022) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer.

Cybulski C, Wokołorczyk D, Jakubowska A, Huzarski T, Byrski T, Gronwald J, Masojć B, Deebniak T, Górski B, Blecharz P, Narod SA, Lubiński J.

J Clin Oncol. 2011 Oct 1;29(28):3747-52. doi: 10.1200/JCO.2010.34.0778. Epub 2011 Aug 29.

PubMed [citation]
PMID:
21876083

A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland.

Bąk A, Janiszewska H, Junkiert-Czarnecka A, Heise M, Pilarska-Deltow M, Laskowski R, Pasińska M, Haus O.

Hered Cancer Clin Pract. 2014 Apr 8;12(1):10. doi: 10.1186/1897-4287-12-10.

PubMed [citation]
PMID:
24713400
PMCID:
PMC3991918
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003212569.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CHEK2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser44Alafs*17) in the CHEK2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024