chr16:68811854:C>T Detail (hg38) (CDH1)

Information

Genome

Assembly Position
hg19 chr16:68,845,757-68,845,757 View the variant detail on this assembly version.
hg38 chr16:68,811,854-68,811,854

HGVS

Type Transcript Protein
RefSeq NM_001317184.1:c.1003C>T NP_001304113.1:p.Arg335Ter
NM_001317186.1:c.1003C>T NP_001304115.1:p.Arg335Ter
NM_004360.4:c.1003C>T NP_004351.1:p.Arg335Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 192090 OMIM
HGNC 1748 HGNC
Ensembl ENSG00000039068 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM194600 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-12-04 criteria provided, multiple submitters, no conflicts Hereditary diffuse gastric adenocarcinoma germline unknown Detail
Pathogenic 2023-09-20 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2021-08-10 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2022-05-10 criteria provided, single submitter Familial cancer of breast,endometrial carcinoma,Malignant tumor of prostate,blepharocheilodontic syndrome 1,Hereditary diffuse gastric adenocarcinoma,Neoplasm of ovary unknown Detail
Pathogenic 2022-05-10 criteria provided, single submitter Familial cancer of breast,endometrial carcinoma,Malignant tumor of prostate,blepharocheilodontic syndrome 1,Hereditary diffuse gastric adenocarcinoma,Neoplasm of ovary unknown Detail
Pathogenic 2022-05-10 criteria provided, single submitter Familial cancer of breast,endometrial carcinoma,Malignant tumor of prostate,blepharocheilodontic syndrome 1,Hereditary diffuse gastric adenocarcinoma,Neoplasm of ovary unknown Detail
Pathogenic 2022-05-10 criteria provided, single submitter Familial cancer of breast,endometrial carcinoma,Malignant tumor of prostate,blepharocheilodontic syndrome 1,Hereditary diffuse gastric adenocarcinoma,Neoplasm of ovary unknown Detail
Pathogenic 2022-05-10 criteria provided, single submitter Familial cancer of breast,endometrial carcinoma,Malignant tumor of prostate,blepharocheilodontic syndrome 1,Hereditary diffuse gastric adenocarcinoma,Neoplasm of ovary unknown Detail
Pathogenic 2022-05-10 criteria provided, single submitter Familial cancer of breast,endometrial carcinoma,Malignant tumor of prostate,blepharocheilodontic syndrome 1,Hereditary diffuse gastric adenocarcinoma,Neoplasm of ovary unknown Detail
Pathogenic 2021-07-01 no assertion criteria provided Gastric cancer germline Detail
Pathogenic 2023-08-29 reviewed by expert panel CDH1-related diffuse gastric and lobular breast cancer syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.389 hereditary diffuse gastric cancer NA CLINVAR Detail
0.123 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter) AND Hereditary diffuse gastric adenocarcinoma ClinVar Detail
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter) AND not provided ClinVar Detail
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter) AND multiple conditions ClinVar Detail
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter) AND multiple conditions ClinVar Detail
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter) AND multiple conditions ClinVar Detail
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter) AND multiple conditions ClinVar Detail
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter) AND multiple conditions ClinVar Detail
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter) AND multiple conditions ClinVar Detail
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter) AND Gastric cancer ClinVar Detail
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter) AND CDH1-related diffuse gastric and lobular breast cancer... 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
rs587780784 dbSNP
Genome
hg38
Position
chr16:68,811,854-68,811,854
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser