chr16:68846147:C>T Detail (hg19) (CDH1)

Information

Genome

Assembly Position
hg19 chr16:68,846,147-68,846,147
hg38 chr16:68,812,244-68,812,244 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001317184.1:c.1118C>T NP_001304113.1:p.Pro373Leu
NM_001317186.1:c.1118C>T NP_001304115.1:p.Pro373Leu
NM_004360.4:c.1118C>T NP_004351.1:p.Pro373Leu
Summary

MGeND

Clinical significance Uncertain significance
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely benign
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 COSM6842414 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Uncertain significance 2021/03/19 Colorectal germline MGS000050
(TMGS000114) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2023-12-12 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Benign Likely benign 2024-01-09 criteria provided, multiple submitters, no conflicts Hereditary diffuse gastric adenocarcinoma germline Detail
Uncertain significance 2021-10-14 criteria provided, single submitter not provided germline Detail
Uncertain significance 2020-09-22 criteria provided, multiple submitters, no conflicts not specified germline unknown Detail
Likely pathogenic 2022-01-01 criteria provided, single submitter ovarian cancer germline Detail
Likely benign 2023-08-17 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
0.123 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004360.5(CDH1):c.1118C>T (p.Pro373Leu) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_004360.5(CDH1):c.1118C>T (p.Pro373Leu) AND Hereditary diffuse gastric adenocarcinoma ClinVar Detail
NM_004360.5(CDH1):c.1118C>T (p.Pro373Leu) AND not provided ClinVar Detail
NM_004360.5(CDH1):c.1118C>T (p.Pro373Leu) AND not specified ClinVar Detail
NM_004360.5(CDH1):c.1118C>T (p.Pro373Leu) AND Ovarian cancer ClinVar Detail
NM_004360.5(CDH1):c.1118C>T (p.Pro373Leu) AND CDH1-related diffuse gastric and lobular breast cancer... ClinVar 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
rs587782359 dbSNP
Genome
hg19
Position
chr16:68,846,147-68,846,147
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser