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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 26, 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:
RCV002285140.8

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

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480
Name:
Malignant tumor of prostate
Synonyms:
Prostate cancer
Identifiers:
MONDO: MONDO:0008315; MedGen: C0376358; Orphanet: 1331; Human Phenotype Ontology: HP:0012125
Name:
Colorectal cancer
Synonyms:
Colorectal cancer, somatic; Malignant Colorectal Neoplasm
Identifiers:
MONDO: MONDO:0005575; MedGen: C0346629; OMIM: 114500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002575018HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - COAGS
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Sep 26, 2022) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - COAGS, SCV002575018.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

PVS1, PS4, PS3_Supporting

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024