chr22:29120962:T>A Detail (hg19) (CHEK2)

Information

Genome

Assembly Position
hg19 chr22:29,120,962-29,120,962
hg38 chr22:28,724,974-28,724,974 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001257387.1:c.592+3A>T
NM_145862.2:c.592+3A>T
NM_001005735.1:c.721+3A>T
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
Pathogenic Likely pathogenic 2023-08-14 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Conflicting interpretations of pathogenicity 2024-01-21 criteria provided, conflicting interpretations Familial cancer of breast germline unknown Detail
Conflicting interpretations of pathogenicity 2024-01-01 criteria provided, conflicting interpretations not provided germline unknown Detail
Pathogenic 2019-09-01 no assertion criteria provided Familial cancer of breast,Li-Fraumeni syndrome 2 germline Detail
Pathogenic 2019-09-01 no assertion criteria provided Familial cancer of breast,Li-Fraumeni syndrome 2 germline Detail
Uncertain significance 2021-08-09 no assertion criteria provided breast carcinoma germline Detail
Likely pathogenic 2022-11-08 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
Pathogenic criteria provided, single submitter Malignant tumor of prostate germline Detail
Likely pathogenic 2024-02-14 criteria provided, single submitter CHEK2-related disorder germline Detail
Likely pathogenic 2024-05-11 criteria provided, single submitter unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_007194.4(CHEK2):c.592+3A>T AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007194.4(CHEK2):c.592+3A>T AND Familial cancer of breast ClinVar Detail
NM_007194.4(CHEK2):c.592+3A>T AND not provided ClinVar Detail
NM_007194.4(CHEK2):c.592+3A>T AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.592+3A>T AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.592+3A>T AND Breast carcinoma ClinVar Detail
NM_007194.4(CHEK2):c.592+3A>T AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007194.4(CHEK2):c.592+3A>T AND Malignant tumor of prostate ClinVar Detail
NM_007194.4(CHEK2):c.592+3A>T AND CHEK2-related disorder ClinVar Detail
NM_007194.4(CHEK2):c.592+3A>T AND Malignant tumor of breast ClinVar Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs587782849 dbSNP
Genome
hg19
Position
chr22:29,120,962-29,120,962
Variant Type
snv
Reference Allele
T
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)
120784
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.3116969134984766E-5
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