chr16:68867265:A>G Detail (hg19) (CDH1)

Information

Genome

Assembly Position
hg19 chr16:68,867,265-68,867,265
hg38 chr16:68,833,362-68,833,362 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001317184.1:c.2512A>G NP_001304113.1:p.Ser838Gly
NM_001317186.1:c.2512A>G NP_001304115.1:p.Ser838Gly
NM_004360.4:c.2512A>G NP_004351.1:p.Ser838Gly
Summary

MGeND

Clinical significance Uncertain significance
Variant entry 2
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 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 COSM19745 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Uncertain significance 2018/01/13 breast, unspecified germline MGS000028
(TMGS000049) 		Yukihide Momozawa RIKEN 30287823
Uncertain significance 2021/03/19 control germline MGS000047
(TMGS000111) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1994-05-01 no assertion criteria provided Neoplasm of ovary somatic Detail
Conflicting interpretations of pathogenicity 2020-10-12 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Conflicting interpretations of pathogenicity 2024-01-24 criteria provided, conflicting interpretations Hereditary diffuse gastric adenocarcinoma germline unknown Detail
Likely benign 2022-12-12 criteria provided, single submitter not specified germline Detail
Uncertain significance 2018-09-11 criteria provided, single submitter Familial cancer of breast germline Detail
Conflicting interpretations of pathogenicity 2023-05-01 criteria provided, conflicting interpretations not provided germline unknown Detail
Likely benign 2021-09-29 criteria provided, single submitter Malignant tumor of prostate,Neoplasm of ovary,Familial cancer of breast,blepharocheilodontic syndrome 1,Hereditary diffuse gastric adenocarcinoma,endometrial carcinoma unknown Detail
Likely benign 2021-09-29 criteria provided, single submitter Malignant tumor of prostate,Neoplasm of ovary,Familial cancer of breast,blepharocheilodontic syndrome 1,Hereditary diffuse gastric adenocarcinoma,endometrial carcinoma unknown Detail
Likely benign 2021-09-29 criteria provided, single submitter Malignant tumor of prostate,Neoplasm of ovary,Familial cancer of breast,blepharocheilodontic syndrome 1,Hereditary diffuse gastric adenocarcinoma,endometrial carcinoma unknown Detail
Likely benign 2021-09-29 criteria provided, single submitter Malignant tumor of prostate,Neoplasm of ovary,Familial cancer of breast,blepharocheilodontic syndrome 1,Hereditary diffuse gastric adenocarcinoma,endometrial carcinoma unknown Detail
Likely benign 2021-09-29 criteria provided, single submitter Malignant tumor of prostate,Neoplasm of ovary,Familial cancer of breast,blepharocheilodontic syndrome 1,Hereditary diffuse gastric adenocarcinoma,endometrial carcinoma unknown Detail
Likely benign 2021-09-29 criteria provided, single submitter Malignant tumor of prostate,Neoplasm of ovary,Familial cancer of breast,blepharocheilodontic syndrome 1,Hereditary diffuse gastric adenocarcinoma,endometrial carcinoma unknown Detail
Likely benign 2023-08-17 reviewed by expert panel CDH1-related diffuse gastric and lobular breast cancer syndrome germline Detail
Likely benign 2020-11-05 criteria provided, single submitter CDH1-related disorder 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
0.248 ovarian neoplasm NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) AND Neoplasm of ovary ClinVar Detail
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) AND Hereditary diffuse gastric adenocarcinoma ClinVar Detail
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) AND not specified ClinVar Detail
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) AND Familial cancer of breast ClinVar Detail
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) AND not provided ClinVar Detail
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) AND multiple conditions ClinVar Detail
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) AND multiple conditions ClinVar Detail
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) AND multiple conditions ClinVar Detail
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) AND multiple conditions ClinVar Detail
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) AND multiple conditions ClinVar Detail
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) AND multiple conditions ClinVar Detail
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) AND CDH1-related diffuse gastric and lobular breast cancer... ClinVar Detail
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) AND CDH1-related disorder ClinVar Detail
NA DisGeNET 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
rs121964872 dbSNP
Genome
hg19
Position
chr16:68,867,265-68,867,265
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8654
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)
121410
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)
3.294621530351701E-5
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