NM_004360.5(CDH1):c.1651G>C (p.Glu551Gln) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 13, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV003169525.2

Allele description [Variation Report for NM_004360.5(CDH1):c.1651G>C (p.Glu551Gln)]

NM_004360.5(CDH1):c.1651G>C (p.Glu551Gln)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

Preferred name:

NM_004360.5(CDH1):c.1651G>C (p.Glu551Gln)

HGVS:

NC_000016.10:g.68819365G>C
NG_008021.1:g.87074G>C
NM_001317184.2:c.1468G>C
NM_001317185.2:c.103G>C
NM_001317186.2:c.-254-2636G>C
NM_004360.3:c.1651G>C
NM_004360.5:c.1651G>CMANE SELECT
NP_001304113.1:p.Glu490Gln
NP_001304114.1:p.Glu35Gln
NP_004351.1:p.Glu551Gln
LRG_301t1:c.1651G>C
LRG_301:g.87074G>C
NC_000016.9:g.68853268G>C
NC_000016.9:g.68853268G>C
NM_004360.4:c.1651G>C

Protein change:

E35Q

Links:

dbSNP: rs1596960532

NCBI 1000 Genomes Browser:

rs1596960532

Molecular consequence:

NM_001317186.2:c.-254-2636G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001317184.2:c.1468G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001317185.2:c.103G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004360.5:c.1651G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

Vmn1r185 vomeronasal 1 receptor 185 [Mus musculus]
Vmn1r185 vomeronasal 1 receptor 185 [Mus musculus]
Gene ID:171265

Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003913316	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 13, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003913316

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 13, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

CDH1 germline mutations in a Chinese cohort with hereditary diffuse gastric cancer.

Pan Z, Fu Z, Luo C, Bao Y, Wang M, Cao W, Xu X.

J Cancer Res Clin Oncol. 2022 Aug;148(8):2145-2151. doi: 10.1007/s00432-021-03775-4. Epub 2021 Sep 18.

PubMed [citation]

PMID:: 34537906

Details of each submission

From Ambry Genetics, SCV003913316.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The p.E551Q variant (also known as c.1651G>C), located in coding exon 11 of the CDH1 gene, results from a G to C substitution at nucleotide position 1651. The glutamic acid at codon 551 is replaced by glutamine, an amino acid with highly similar properties. This alteration was identified in a Chinese cohort of individuals with hereditary diffuse gastric cancer (HDGC) (Pan Z et al. J Cancer Res Clin Oncol, 2022 Aug;148:2145-2151). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine