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NM_007194.4(CHEK2):c.129C>T (p.Thr43=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Mar 14, 2019)
Last evaluated:
May 14, 2018
Accession:
VCV000186211.2
Variation ID:
186211
Description:
single nucleotide variant
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NM_007194.4(CHEK2):c.129C>T (p.Thr43=)

Allele ID
185657
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.1
Genomic location
22: 28734593 (GRCh38) GRCh38 UCSC
22: 29130581 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.29130581G>A
NC_000022.11:g.28734593G>A
NM_001005735.2:c.129C>T NP_001005735.1:p.Thr43= synonymous
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA194163
dbSNP: rs786202779
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Sep 11, 2014 RCV000165762.1
Likely benign 1 criteria provided, single submitter Nov 20, 2017 RCV000611853.1
Likely benign 1 criteria provided, single submitter May 14, 2018 RCV000876995.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CHEK2 - - GRCh38
GRCh37
1738 1769

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Nov 20, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000725124.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at ... (more)
Likely benign
(Sep 11, 2014)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000216507.4
Submitted: (Jul 30, 2018)
Evidence details
Likely benign
(May 14, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001019652.1
Submitted: (Mar 14, 2019)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Dec 17, 2019