ClinVar Genomic variation as it relates to human health
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Likely pathogenic(12); Uncertain significance(4)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)
Variation ID: 141783 Accession: VCV000141783.47
- Type and length
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Microsatellite, 3 bp
- Location
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Cytogenetic: 22q12.1 22: 28725084-28725086 (GRCh38) [ NCBI UCSC ] 22: 29121072-29121074 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Mar 20, 2016 Oct 8, 2024 May 30, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007194.4:c.480AGA[1] MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009125.1:p.Glu161del inframe deletion NM_007194.4:c.483_485del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NM_007194.4:c.483_485delAGA MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NM_001005735.2:c.609AGA[1] NP_001005735.1:p.Glu204del inframe deletion NM_001005735.2:c.612_614delAGA NM_001257387.2:c.-298AGA[1] 5 prime UTR NM_001349956.2:c.444+157_444+159del intron variant NM_145862.2:c.480AGA[1] NP_665861.1:p.Glu161del inframe deletion NC_000022.11:g.28725084TCT[1] NC_000022.10:g.29121072TCT[1] NG_008150.2:g.21778AGA[1] LRG_302:g.21778AGA[1] LRG_302t1:c.480AGA[1] LRG_302p1:p.Glu161del - Protein change
- E161del, E204del
- Other names
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- Canonical SPDI
- NC_000022.11:28725083:TCTTCT:TCT
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
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The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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CHEK2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4048 | 4104 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Likely pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Oct 24, 2023 | RCV000130429.21 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Nov 20, 2015 | RCV000210175.6 | |
Conflicting interpretations of pathogenicity (7) |
criteria provided, conflicting classifications
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Jan 29, 2024 | RCV000198423.25 | |
Conflicting interpretations of pathogenicity (4) |
criteria provided, conflicting classifications
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May 30, 2024 | RCV000212423.25 | |
Likely pathogenic (1) |
no assertion criteria provided
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Dec 22, 2015 | RCV000416789.4 | |
Uncertain significance (1) |
criteria provided, single submitter
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Jun 15, 2021 | RCV001251060.5 | |
CHEK2-related disorder
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Uncertain significance (1) |
no assertion criteria provided
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Mar 8, 2024 | RCV004737221.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Uncertain significance
(Jun 15, 2021)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000698807.3
First in ClinVar: Jun 03, 2016 Last updated: Jun 25, 2021 |
Comment:
Variant summary: CHEK2 c.483_485delAGA (p.Glu161del) results in an in-frame deletion that is predicted to remove one amino acids from the encoded protein. The variant allele … (more)
Variant summary: CHEK2 c.483_485delAGA (p.Glu161del) results in an in-frame deletion that is predicted to remove one amino acids from the encoded protein. The variant allele was found at a frequency of 1.6e-05 in 253044 control chromosomes (gnomAD and publication data). c.483_485delAGA has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (e.g. Sodha_2002, Caminsky_2016, Susswein_2016, Carter_2018, Arvai_2019, Hines_2019, Greville-Heygate_2020). These publications do not provide conclusive evidence for disease causality, however, as segregation analysis was reported in only one of these papers. In a family with this variant, 1 transmission of the variant allele and 2 transmissions of the reference allele to affected individuals was reported (Sodha_2002), allowing no conclusions on the variant effect in this family. The variant has also been reported in individuals with prostate cancer (Wu_2018) and pancreatic cancer (Hu_2018). At least two publications cite experimental evidence evaluating an impact on protein function, reporting that the variant reduces CHEK2 stability and DNA damage-induced phosphorylation and significantly diminishes kinase activity in vitro (Sodha_2006, Desrichard_2011). 11 ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance (n=4) and likely pathogenic (n=7). Based on the evidence outlined above, until additional information becomes available (such as segregation with disease in a family), the variant was classified as VUS-possibly pathogenic. (less)
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Likely pathogenic
(Aug 11, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
Accession: SCV001468024.2
First in ClinVar: Jan 09, 2021 Last updated: Jan 26, 2022 |
Comment on evidence:
PS3, PS4_Moderate
Secondary finding: yes
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Likely pathogenic
(Jan 29, 2024)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000255306.12
First in ClinVar: Oct 11, 2015 Last updated: Feb 14, 2024 |
Comment:
This variant, c.483_485del, results in the deletion of 1 amino acid(s) of the CHEK2 protein (p.Glu161del), but otherwise preserves the integrity of the reading frame. … (more)
This variant, c.483_485del, results in the deletion of 1 amino acid(s) of the CHEK2 protein (p.Glu161del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs587782008, gnomAD 0.004%). This variant has been observed in individual(s) with breast and/or ovarian cancer and breast cancer and prostate cancer (PMID: 12442270, 26845104, 26898890, 29520813, 30633282, 31341520; Invitae). It has also been observed to segregate with disease in related individuals. This variant is also known as 481_483del. ClinVar contains an entry for this variant (Variation ID: 141783). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects CHEK2 function (PMID: 16982735, 22114986). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. (less)
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Likely pathogenic
(Jan 21, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV000903081.4
First in ClinVar: May 20, 2019 Last updated: Feb 14, 2024 |
Comment:
This variant deletes 1 amino acid from the FHA domain of the CHEK2 protein. Functional studies have shown that this variant reduces CHEK2 stability, DNA … (more)
This variant deletes 1 amino acid from the FHA domain of the CHEK2 protein. Functional studies have shown that this variant reduces CHEK2 stability, DNA damage-induced phosphorylation, and kinase activity in vitro (PMID: 16982735, 22114986). The reduction in activity was comparable to known pathogenic CHEK2 variants used in the studies. This variant has been observed in individuals affected with breast cancer, with breast cancer reported in first-degree relatives (PMID: 26845104, 30633282; communications with external laboratories: ClinVar SCV000255306, SCV000185293). It has been shown that this variant segregates with disease in multiple families (communication with external laboratory: ClinVar SCV000255306) although segregation was inconclusive in another report (PMID: 26898890). This variant has also been reported in individuals affected with breast and/or ovarian cancer (PMID: 12442270, 26681312, 32923877, 34299313), prostate cancer (PMID: 29520813) and pancreatic cancer (PMID: 29922827). This variant has been identified in 5/282820 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Likely Pathogenic. (less)
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Likely pathogenic
(Jan 17, 2024)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004217583.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
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Likely pathogenic
(May 30, 2024)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000211012.17
First in ClinVar: Feb 24, 2015 Last updated: Sep 16, 2024 |
Comment:
In-frame deletion of 1 amino acid in a non-repeat region; Published functional studies demonstrate a damaging effect: absent kinase activity, reduced protein expression and stability, … (more)
In-frame deletion of 1 amino acid in a non-repeat region; Published functional studies demonstrate a damaging effect: absent kinase activity, reduced protein expression and stability, and reduced activation in response to DNA damage (PMID: 16982735, 22114986, 36468172); Observed in several individuals with personal and family history consistent with pathogenic variants in this gene referred for genetic testing at GeneDx and in published literature (PMID: 12442270, 22114986, 26898890, 26845104, 30633282, 34326862, 34299313); In silico analysis supports a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26845104, 26898890, 31398194, 16982735, 22114986, 12442270, 26681312, 19338683, 27498913, 27621404, 28135136, 28301460, 29922827, 23242139, 12454775, 30633282, 29520813, 30322717, 32805687, 32923877, 36139606, 35441217, 19782031, 22419737, 36468172, 34299313, Natalia[article]2023, 31341520, 34326862) (less)
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Likely pathogenic
(Dec 23, 2021)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Sema4, Sema4
Accession: SCV002537604.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022
Comment:
The CHEK2 c.483_485del (p.E161del) variant has been reported in heterozygosity in at least five individuals with hereditary breast and/or ovarian cancer (PMID: 12442270, 26681312, 30633282, … (more)
The CHEK2 c.483_485del (p.E161del) variant has been reported in heterozygosity in at least five individuals with hereditary breast and/or ovarian cancer (PMID: 12442270, 26681312, 30633282, 32923877, 26845104). This variant results in a deletion of conserved amino acid without altering the integrity of the reading frame. Functional studies have shown that this variant reduces CHEK2 stability, DNA damage-induced phosphorylation, and kinase activity comparable to known pathogenic CHEK2 variants (PMID: 16982735, 30633282). This variant was observed in 1/24966 chromosomes in the African/African American subpopulation in the Genome Aggregation Database (http://gnomad.broadinstitute.org, PMID: 32461654). This variant has been reported in ClinVar (Variation ID: 141783). Based on the current evidence available, this variant is interpreted as likely pathogenic. (less)
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Uncertain significance
(Jan 19, 2022)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: yes
Allele origin:
germline
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MGZ Medical Genetics Center
Accession: SCV002580731.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022
Comment:
ACMG criteria applied: PS4_MOD, PS3_SUP, PM2_SUP, PM4_SUP
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Number of individuals with the variant: 1
Sex: female
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Likely pathogenic
(Nov 20, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast and colorectal cancer, susceptibility to
Affected status: yes
Allele origin:
germline
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University of Washington Department of Laboratory Medicine, University of Washington
Accession: SCV000266065.1
First in ClinVar: Mar 20, 2016 Last updated: Mar 20, 2016 |
Number of individuals with the variant: 1
Clinical Features:
breast cancer (present)
Age: 40-49 years
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Likely pathogenic
(Feb 25, 2020)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: no
Allele origin:
germline
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Division of Medical Genetics, University of Washington
Study: CSER_CHARM
Accession: SCV001434260.1 First in ClinVar: Oct 02, 2020 Last updated: Oct 02, 2020 |
Comment:
This variant has been reported in individuals and families with breast cancer (Caminsky 2016, Desrichard 2011, Shirts 2016, Sodha 2002), and functional studies have demonstrated … (more)
This variant has been reported in individuals and families with breast cancer (Caminsky 2016, Desrichard 2011, Shirts 2016, Sodha 2002), and functional studies have demonstrated that this variant decreases protein expression and reduces activation and kinase activity (Desrichard 2011, Sodha 2006). This variant has been observed 5 times in the gnomAD database and has an overall allele frequency of 0.00001768 (https://gnomad.broadinstitute.org/). In addition, multiple in silico tools predict a damaging effect on protein structure and function. Based on this information, we consider this variant to be likely pathogenic. PS4-moderate; PP3 (less)
Indication for testing: Family history of breast cancer, Ashkenazi Jewish ancestry
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Uncertain significance
(Apr 21, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000889336.3
First in ClinVar: Sep 13, 2018 Last updated: Jan 26, 2021 |
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Uncertain significance
(Aug 23, 2016)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV000489121.2
First in ClinVar: Jul 01, 2016 Last updated: Dec 24, 2022 |
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Likely pathogenic
(Aug 15, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV002761111.3
First in ClinVar: Dec 17, 2022 Last updated: Aug 18, 2023 |
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Likely pathogenic
(Aug 17, 2023)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
unknown
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Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV004032302.1
First in ClinVar: Sep 09, 2023 Last updated: Sep 09, 2023 |
Comment:
Criteria applied: PS3,PS4_MOD,PM1_SUP,PM2_SUP,PM4_SUP
Clinical Features:
Breast carcinoma (present)
Sex: female
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Likely pathogenic
(May 09, 2023)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV004044161.2
First in ClinVar: Oct 21, 2023 Last updated: Oct 28, 2023 |
Comment:
This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 16982735]. This variant is expected to disrupt protein structure [Myriad … (more)
This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 16982735]. This variant is expected to disrupt protein structure [Myriad internal data]. (less)
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Likely pathogenic
(Oct 24, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000185293.10
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The c.483_485delAGA variant (also known as p.E161del), located in coding exon 3 of the CHEK2 gene, results from the deletion of 3 nucleotides at positions … (more)
The c.483_485delAGA variant (also known as p.E161del), located in coding exon 3 of the CHEK2 gene, results from the deletion of 3 nucleotides at positions 483 to 485 and causes the removal of a highly-conserved glutamic acid residue at codon 161. This variant is located in the FHA functional domain and has been associated with decreased protein expression, stability, and phosphorylation compared to wild type CHK2 (Sodha N et al. Cancer Res. 2006 Sep;66:8966-70; Desrichard A et al. Breast Cancer Res. 2011 Nov;13:R119). Of note, this alteration is also designated as delE161 in published literature. Based on internal structural assessment, this alteration results in disruption of the FHA domain (Cai Z et al. Mol. Cell. 2009 Sep;35:818-29; Ambry internal data). Additionally, this alteration has been identified in cohorts of patients diagnosed with breast, ovarian, and prostate cancers (Susswein LR et al. Genet. Med. 2016 08;18:823-32; Shirts BH et al. Genet. Med. 2016 10;18:974-81; Wu Y et al. Prostate. 2018 06;78:607-615; Carter NJ et al. Gynecol. Oncol. 2018 12;151:481-488; Hines SL et al. Mol Omics. 2019 02;15:59-66; Guglielmi C et al. Int J Mol Sci, 2021 Jul;22:). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688); however, direct evidence is insufficient at this time (Ambry internal data). Based on the majority of available evidence to date, this variant is likely to be pathogenic. (less)
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Uncertain significance
(Mar 08, 2024)
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no assertion criteria provided
Method: clinical testing
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CHEK2-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV000806882.2
First in ClinVar: Sep 13, 2018 Last updated: Oct 08, 2024 |
Comment:
The CHEK2 c.483_485delAGA variant is predicted to result in an in-frame deletion (p.Glu161del). This variant has been reported in patients with a history of breast … (more)
The CHEK2 c.483_485delAGA variant is predicted to result in an in-frame deletion (p.Glu161del). This variant has been reported in patients with a history of breast or ovarian cancer/tumor (Sodha et al. 2002, PubMed ID: 12442270; Table S1, Susswein et al. 2016, PubMed ID: 26681312; Table S1, Carter et al. 2018. PubMed ID: 30322717). However in one family study, this variant did not segregate with disease in at least two individuals with osteosarcoma and breast cancer (Sodha et al. 2002, PubMed ID: 12442270). In addition, this variant was observed 18 times in a cohort of samples tested for multi-gene hereditary cancer, however no further phenotypic information related to this variant was provided (Table S1, Sutcliffe et al. 2020. PubMed ID: 32805687). Functional studies have revealed that the in-frame p.Glu161del variant impacts CHEK2 protein stability and phosphorylation activity (Sodha et al. 2006, PubMed ID: 16982735). This variant was reported in two individuals with prostate cancer, however, it does not contribute to increased risk of lethal prostate cancer (Table 2, Wu. 2018. PubMed ID: 29520813). This variant is reported in 0.0040% of alleles in individuals of African descent in gnomAD. This variant is interpreted as uncertain or likely pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/141783/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. (less)
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Likely pathogenic
(Dec 22, 2015)
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no assertion criteria provided
Method: research
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Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
unknown
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Dr. Peter K. Rogan Lab, Western University
Study: Caminsky_2016
Accession: SCV000262585.1 First in ClinVar: Feb 10, 2017 Last updated: Feb 10, 2017 |
Comment:
Sequenced patient with familial breast cancer
Number of individuals with the variant: 1
Age: 50-59 years
Sex: female
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions. | Guglielmi C | International journal of molecular sciences | 2021 | PMID: 34299313 |
Pathogenic Variants in CHEK2 Are Associated With an Adverse Prognosis in Symptomatic Early-Onset Breast Cancer. | Greville-Heygate SL | JCO precision oncology | 2020 | PMID: 32923877 |
Computational analysis of high-risk SNPs in human CHK2 gene responsible for hereditary breast cancer: A functional and structural impact. | Badgujar NV | PloS one | 2019 | PMID: 31398194 |
Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls. | Arvai KJ | Hereditary cancer in clinical practice | 2019 | PMID: 31341520 |
Integrative data fusion for comprehensive assessment of a novel CHEK2 variant using combined genomics, imaging, and functional-structural assessments via protein informatics. | Hines SL | Molecular omics | 2019 | PMID: 30633282 |
Germline pathogenic variants identified in women with ovarian tumors. | Carter NJ | Gynecologic oncology | 2018 | PMID: 30322717 |
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. | Hu C | JAMA | 2018 | PMID: 29922827 |
A comprehensive evaluation of CHEK2 germline mutations in men with prostate cancer. | Wu Y | The Prostate | 2018 | PMID: 29520813 |
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar. | Harrison SM | Genetics in medicine : official journal of the American College of Medical Genetics | 2017 | PMID: 28301460 |
Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing. | Balmaña J | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2016 | PMID: 27621404 |
Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations. | Caminsky NG | Human mutation | 2016 | PMID: 26898890 |
Improving performance of multigene panels for genomic analysis of cancer predisposition. | Shirts BH | Genetics in medicine : official journal of the American College of Medical Genetics | 2016 | PMID: 26845104 |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. | Susswein LR | Genetics in medicine : official journal of the American College of Medical Genetics | 2016 | PMID: 26681312 |
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. | Ruark E | Nature | 2013 | PMID: 23242139 |
CHEK2 contribution to hereditary breast cancer in non-BRCA families. | Desrichard A | Breast cancer research : BCR | 2011 | PMID: 22114986 |
Structure and activation mechanism of the CHK2 DNA damage checkpoint kinase. | Cai Z | Molecular cell | 2009 | PMID: 19782031 |
The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype. | Ruijs MW | Hereditary cancer in clinical practice | 2009 | PMID: 19338683 |
Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation. | Sodha N | Cancer research | 2006 | PMID: 16982735 |
Analysis of familial male breast cancer for germline mutations in CHEK2. | Sodha N | Cancer letters | 2004 | PMID: 15488637 |
Increasing evidence that germline mutations in CHEK2 do not cause Li-Fraumeni syndrome. | Sodha N | Human mutation | 2002 | PMID: 12442270 |
Lower urinary obstruction due to cystic calculi in a female cat (a case report). | Bradley RL | Veterinary medicine, small animal clinician : VM, SAC | 1979 | PMID: 255306 |
Hypergammaglobulinemia in chickens congenitally infected with an avian leukosis virus. | Qualtiere LF | Journal of immunology (Baltimore, Md. : 1950) | 1976 | PMID: 185293 |
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Text-mined citations for rs587782008 ...
HelpRecord last updated Oct 13, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.