NM_004360.5(CDH1):c.695C>G (p.Ser232Cys) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 15, 2017
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:: RCV000574198.3

Allele description [Variation Report for NM_004360.5(CDH1):c.695C>G (p.Ser232Cys)]

NM_004360.5(CDH1):c.695C>G (p.Ser232Cys)

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.695C>G (p.Ser232Cys)

HGVS:

NC_000016.10:g.68810204C>G
NG_008021.1:g.77913C>G
NM_001317184.2:c.695C>G
NM_001317185.2:c.-921C>G
NM_001317186.2:c.-1125C>G
NM_004360.5:c.695C>GMANE SELECT
NP_001304113.1:p.Ser232Cys
NP_004351.1:p.Ser232Cys
LRG_301t1:c.695C>G
LRG_301:g.77913C>G
NC_000016.9:g.68844107C>G
NM_004360.3:c.695C>G

Protein change:

S232C

Links:

dbSNP: rs1555515422

NCBI 1000 Genomes Browser:

rs1555515422

Molecular consequence:

NM_001317185.2:c.-921C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001317186.2:c.-1125C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001317184.2:c.695C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004360.5:c.695C>G - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000669081	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 15, 2017)	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

SCV000669081

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 15, 2017)

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

E-cadherin destabilization accounts for the pathogenicity of missense mutations in hereditary diffuse gastric cancer.

Simões-Correia J, Figueiredo J, Lopes R, Stricher F, Oliveira C, Serrano L, Seruca R.

PLoS One. 2012;7(3):e33783. doi: 10.1371/journal.pone.0033783. Epub 2012 Mar 21.

PubMed [citation]

PMID:: 22470475
PMCID:: PMC3309996

Details of each submission

From Ambry Genetics, SCV000669081.5

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

Description

The p.S232C variant (also known as c.695C>G), located in coding exon 6 of the CDH1 gene, results from a C to G substitution at nucleotide position 695. The serine at codon 232 is replaced by cysteine, an amino acid with dissimilar properties. This alteration was found to stabilize the E-cadherin protein, retain the ability of the E-cadherin protein to form tight cellular aggregates, and retain normal levels of E-cadherin expression when compared to the wild-type (Simões-Correia J et al. PLoS ONE, 2012 Mar;7:e33783). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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: May 1, 2024

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