chr22:29115474:C>T Detail (hg19) (CHEK2)

Information

Genome

Assembly Position
hg19 chr22:29,115,474-29,115,474
hg38 chr22:28,719,486-28,719,486 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001257387.1:c.593-1G>A
NM_145862.2:c.593-1G>A
NM_001005735.1:c.722-1G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
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
Likely pathogenic 2014-10-29 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2023-06-26 criteria provided, multiple submitters, no conflicts Familial cancer of breast 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.593-1G>A AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007194.4(CHEK2):c.593-1G>A AND Familial cancer of breast ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs786203229 dbSNP
Genome
hg19
Position
chr22:29,115,474-29,115,474
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser