chr22:28695219:G>A Detail (hg38) (CHEK2)

Information

Genome

Assembly Position
hg19 chr22:29,091,207-29,091,207 View the variant detail on this assembly version.
hg38 chr22:28,695,219-28,695,219

HGVS

Type Transcript Protein
RefSeq NM_001257387.1:c.1196C>T NP_001244316.1:p.Ser399Phe
NM_145862.2:c.1196C>T NP_665861.1:p.Ser399Phe
NM_001005735.1:c.1412C>T NP_001005735.1:p.Ser471Phe
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 Pathogenic Likely pathogenic low penetrance Established risk allele
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
Pathogenic 2021-08-09 no assertion criteria provided Breast cancer, susceptibility to germline Detail
Pathogenic Likely pathogenic Established risk allele 2023-10-24 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic Likely pathogenic Pathogenic low penetrance 2024-01-30 criteria provided, multiple submitters, no conflicts Familial cancer of breast germline unknown Detail
Pathogenic 2015-11-20 criteria provided, single submitter Breast and colorectal cancer, susceptibility to germline Detail
Pathogenic Likely pathogenic 2024-03-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2016-06-14 criteria provided, single submitter Breast neoplasm germline Detail
Pathogenic 2017-05-18 criteria provided, single submitter bone osteosarcoma,Malignant tumor of prostate,Familial cancer of breast,Li-Fraumeni syndrome 2 unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter bone osteosarcoma,Malignant tumor of prostate,Familial cancer of breast,Li-Fraumeni syndrome 2 unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter bone osteosarcoma,Malignant tumor of prostate,Familial cancer of breast,Li-Fraumeni syndrome 2 unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter bone osteosarcoma,Malignant tumor of prostate,Familial cancer of breast,Li-Fraumeni syndrome 2 unknown Detail
Pathogenic 2022-06-16 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
Likely pathogenic no assertion criteria provided unknown Detail
Pathogenic 2020-06-09 criteria provided, single submitter CHEK2-related cancer risk germline Detail
Pathogenic 2005-02-15 no assertion criteria provided TUMOR PREDISPOSITION SYNDROME 4, BREAST germline Detail
Likely pathogenic 2022-08-24 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
Pathogenic 2024-01-06 criteria provided, single submitter CHEK2-related disorder germline Detail
Pathogenic 2017-09-05 criteria provided, single submitter CHEK2-related cancer predisposition germline unknown 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.1283C>T (p.Ser428Phe) AND Breast cancer, susceptibility to ClinVar Detail
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) AND Familial cancer of breast ClinVar Detail
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) AND Breast and colorectal cancer, susceptibility to ClinVar Detail
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) AND not provided ClinVar Detail
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) AND Breast neoplasm ClinVar Detail
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) AND Malignant tumor of breast ClinVar Detail
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) AND CHEK2-related cancer risk ClinVar Detail
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) AND TUMOR PREDISPOSITION SYNDROME 4, BREAST ClinVar Detail
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) AND Breast and/or ovarian cancer ClinVar Detail
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) AND CHEK2-related disorder ClinVar Detail
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) 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
rs137853011 dbSNP
Genome
hg38
Position
chr22:28,695,219-28,695,219
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8614
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)
118600
Allele Counts in All Race (ExAC)
37
Heterozygous Counts in All Race (ExAC)
37
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.1197301854974703E-4
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