chr22:28734532:C>T Detail (hg38) (CHEK2)

Information

Genome

Assembly Position
hg19 chr22:29,130,520-29,130,520 View the variant detail on this assembly version.
hg38 chr22:28,734,532-28,734,532

HGVS

Type Transcript Protein
RefSeq NM_001257387.1:c.190G>A NP_001244316.1:p.Glu64Lys
NM_145862.2:c.190G>A NP_665861.1:p.Glu64Lys
NM_001005735.1:c.190G>A NP_001005735.1:p.Glu64Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 604373 OMIM
HGNC 16627 HGNC
Ensembl ENSG00000183765 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-01-31 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Conflicting interpretations of pathogenicity 2024-03-27 criteria provided, conflicting interpretations Familial cancer of breast germline unknown Detail
Likely pathogenic 2019-09-09 criteria provided, single submitter Breast and colorectal cancer, susceptibility to germline Detail
Conflicting interpretations of pathogenicity 2023-07-01 criteria provided, conflicting interpretations not provided germline unknown Detail
Uncertain significance 2021-07-30 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
Uncertain significance no assertion criteria provided unknown Detail
Likely pathogenic 2023-07-17 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
Uncertain significance 2023-08-15 criteria provided, single submitter not specified germline Detail
Likely pathogenic 2022-01-03 criteria provided, single submitter Predisposition to cancer germline Detail
Uncertain significance criteria provided, single submitter Li-Fraumeni syndrome 2 germline Detail
Uncertain significance 2024-01-12 criteria provided, single submitter CHEK2-related disorder germline Detail
Uncertain significance 2017-04-27 criteria provided, single submitter CHEK2-related cancer predisposition germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.127 Breast Cancer, Familial NA CLINVAR Detail
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) AND Familial cancer of breast ClinVar Detail
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) AND Breast and colorectal cancer, susceptibility to ClinVar Detail
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) AND not provided ClinVar Detail
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) AND Breast and/or ovarian cancer ClinVar Detail
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) AND Malignant tumor of breast ClinVar Detail
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) AND not specified ClinVar Detail
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) AND Predisposition to cancer ClinVar Detail
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) AND Li-Fraumeni syndrome 2 ClinVar Detail
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) AND CHEK2-related disorder ClinVar Detail
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) AND CHEK2-related cancer predisposition ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs141568342 dbSNP
Genome
hg38
Position
chr22:28,734,532-28,734,532
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121362
Allele Counts in All Race (ExAC)
20
Heterozygous Counts in All Race (ExAC)
20
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.647962294622699E-4
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