chr16:68822138:G>A Detail (hg38) (CDH1)

Information

Genome

Assembly Position
hg19 chr16:68,856,041-68,856,041 View the variant detail on this assembly version.
hg38 chr16:68,822,138-68,822,138

HGVS

Type Transcript Protein
RefSeq NM_001317184.1:c.1849G>A NP_001304113.1:p.Ala617Thr
NM_001317186.1:c.1849G>A NP_001304115.1:p.Ala617Thr
NM_004360.4:c.1849G>A NP_004351.1:p.Ala617Thr
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 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 tgv396207178 TogoVar
COSMIC COSM19743 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2003-03-01 no assertion criteria provided endometrial carcinoma somatic Detail
Benign Likely benign 2024-02-01 criteria provided, multiple submitters, no conflicts Hereditary diffuse gastric adenocarcinoma germline unknown Detail
Benign 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2023-08-15 criteria provided, multiple submitters, no conflicts not specified germline unknown Detail
Benign Likely benign 2020-03-21 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Benign no assertion criteria provided unknown Detail
Benign 2021-05-26 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
Benign 2021-08-25 criteria provided, single submitter blepharocheilodontic syndrome 1,Neoplasm of ovary,Malignant tumor of prostate,Hereditary diffuse gastric adenocarcinoma,Familial cancer of breast,endometrial carcinoma unknown Detail
Benign 2021-08-25 criteria provided, single submitter blepharocheilodontic syndrome 1,Neoplasm of ovary,Malignant tumor of prostate,Hereditary diffuse gastric adenocarcinoma,Familial cancer of breast,endometrial carcinoma unknown Detail
Benign 2021-08-25 criteria provided, single submitter blepharocheilodontic syndrome 1,Neoplasm of ovary,Malignant tumor of prostate,Hereditary diffuse gastric adenocarcinoma,Familial cancer of breast,endometrial carcinoma unknown Detail
Benign 2021-08-25 criteria provided, single submitter blepharocheilodontic syndrome 1,Neoplasm of ovary,Malignant tumor of prostate,Hereditary diffuse gastric adenocarcinoma,Familial cancer of breast,endometrial carcinoma unknown Detail
Benign 2021-08-25 criteria provided, single submitter blepharocheilodontic syndrome 1,Neoplasm of ovary,Malignant tumor of prostate,Hereditary diffuse gastric adenocarcinoma,Familial cancer of breast,endometrial carcinoma unknown Detail
Benign 2021-08-25 criteria provided, single submitter blepharocheilodontic syndrome 1,Neoplasm of ovary,Malignant tumor of prostate,Hereditary diffuse gastric adenocarcinoma,Familial cancer of breast,endometrial carcinoma unknown Detail
Benign 2023-08-08 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
0.123 endometrial carcinoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) AND Endometrial carcinoma ClinVar Detail
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) AND Hereditary diffuse gastric adenocarcinoma ClinVar Detail
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) AND not provided ClinVar Detail
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) AND not specified ClinVar Detail
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) AND Malignant tumor of breast ClinVar Detail
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) AND Breast and/or ovarian cancer ClinVar Detail
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) AND multiple conditions ClinVar Detail
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) AND multiple conditions ClinVar Detail
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) AND multiple conditions ClinVar Detail
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) AND multiple conditions ClinVar Detail
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) AND multiple conditions ClinVar Detail
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) AND multiple conditions ClinVar Detail
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) AND CDH1-related diffuse gastric and lobular breast cancer... 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
rs33935154 dbSNP
Genome
hg38
Position
chr16:68,822,138-68,822,138
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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)
513
Heterozygous Counts in All Race (ExAC)
483
Homozygous Counts in All Race (ExAC)
15
Allele Frequency in All Race (ExAC)
0.004225352112676056
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