chr16:68823593:C>G Detail (hg38) (CDH1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr16:68,857,496-68,857,496 View the variant detail on this assembly version.
hg38	chr16:68,823,593-68,823,593

HGVS

CDH1

Type	Transcript	Protein
RefSeq	NM_001317184.1:c.2131C>G	NP_001304113.1:p.Leu711Val
	NM_001317186.1:c.2131C>G	NP_001304115.1:p.Leu711Val
	NM_004360.4:c.2131C>G	NP_004351.1:p.Leu711Val
Ensemble	ENST00000422392.6:c.1948C>G	ENST00000422392.6:p.Leu650Val
	ENST00000261769.10:c.2131C>G	ENST00000261769.10:p.Leu711Val

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely benign
Review star
Show details

Links

CDH1

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	COSM19742	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1994-05-01	no assertion criteria provided	endometrial carcinoma	somatic	Detail
Conflicting interpretations of pathogenicity	2023-02-07	criteria provided, conflicting interpretations	Hereditary cancer-predisposing syndrome	germline	Detail
Conflicting interpretations of pathogenicity	2023-11-15	criteria provided, conflicting interpretations	Hereditary diffuse gastric adenocarcinoma	germline unknown	Detail
Uncertain significance	2022-09-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Uncertain significance		no assertion criteria provided		unknown	Detail
Uncertain significance	2018-04-18	criteria provided, single submitter	not specified	germline	Detail
Likely benign	2023-08-18	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

Descrption	Source	Links
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val) AND Endometrial carcinoma	ClinVar	Detail
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val) AND Hereditary diffuse gastric adenocarcinoma	ClinVar	Detail
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val) AND not provided	ClinVar	Detail
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val) AND Malignant tumor of breast	ClinVar	Detail
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val) AND not specified	ClinVar	Detail
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val) 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: rs121964871 dbSNP
Genome: hg38
Position: chr16:68,823,593-68,823,593
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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