NM_004360.5(CDH1):c.808T>G (p.Ser270Ala) AND not provided

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Sep 19, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000235151.10

Allele description [Variation Report for NM_004360.5(CDH1):c.808T>G (p.Ser270Ala)]

NM_004360.5(CDH1):c.808T>G (p.Ser270Ala)

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.808T>G (p.Ser270Ala)

Other names:

p.S270A:TCT>GCT; NM_004360.5(CDH1):c.808T>G

HGVS:

NC_000016.10:g.68810317T>G
NG_008021.1:g.78026T>G
NM_001317184.2:c.808T>G
NM_001317185.2:c.-808T>G
NM_001317186.2:c.-1012T>G
NM_004360.5:c.808T>GMANE SELECT
NP_001304113.1:p.Ser270Ala
NP_004351.1:p.Ser270Ala
LRG_301t1:c.808T>G
LRG_301:g.78026T>G
NC_000016.9:g.68844220T>G
NM_004360.3:c.808T>G
NM_004360.4:c.808T>G
P12830:p.Ser270Ala
p.S270A

Protein change:

S270A

Links:

UniProtKB: P12830#VAR_013970; dbSNP: rs587776399

Molecular consequence:

NM_001317185.2:c.-808T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001317186.2:c.-1012T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001317184.2:c.808T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004360.5:c.808T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000210905	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (May 13, 2019)	germline	clinical testing	Citation Link,
SCV002046227	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely benign (Sep 19, 2020)	unknown	clinical testing	PubMed (9) [See all records that cite these PMIDs] 30333958, 27582386, 26898890, 22225527, 20373070, 17545690, 11705864, 11948460, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000210905

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(May 13, 2019)

germline

clinical testing

Citation Link,

SCV002046227

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Likely benign
(Sep 19, 2020)

unknown

clinical testing

PubMed (9)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

The Ethnic-Specific Spectrum of Germline Nucleotide Variants in DNA Damage Response and Repair Genes in Hereditary Breast and Ovarian Cancer Patients of Tatar Descent.

Brovkina OI, Shigapova L, Chudakova DA, Gordiev MG, Enikeev RF, Druzhkov MO, Khodyrev DS, Shagimardanova EI, Nikitin AG, Gusev OA.

Front Oncol. 2018;8:421. doi: 10.3389/fonc.2018.00421.

PubMed [citation]

PMID:: 30333958
PMCID:: PMC6176317

Roles for E-cadherin cell surface regulation in cancer.

Petrova YI, Schecterson L, Gumbiner BM.

Mol Biol Cell. 2016 Nov 1;27(21):3233-3244. Epub 2016 Aug 31.

PubMed [citation]

PMID:: 27582386
PMCID:: PMC5170857

See all PubMed Citations (9)

Details of each submission

From GeneDx, SCV000210905.14

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

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26182300, 11948460, 19725995, 17545690, 11705864, 22098830, 27582386, 29928469, 30333958, 32426482)

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002046227.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (9)

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

Last Updated: Apr 12, 2026

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