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NM_007194.4(CHEK2):c.683+15T>G

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 6, 2018)
Last evaluated:
Jan 29, 2018
Accession:
VCV000631254.1
Variation ID:
631254
Description:
single nucleotide variant
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NM_007194.4(CHEK2):c.683+15T>G

Allele ID
619803
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.1
Genomic location
22: 28719380 (GRCh38) GRCh38 UCSC
22: 29115368 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.29115368A>C
NC_000022.11:g.28719380A>C
NM_145862.2:c.683+15T>G
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1569149564
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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 Jan 29, 2018 RCV000777426.1
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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
(Jan 29, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color
Accession: SCV000913288.1
Submitted: (Nov 06, 2018)
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 Oct 27, 2019