NM_004360.5(CDH1):c.56C>G (p.Ser19Cys) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 19, 2024
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:: RCV005018961.1

Allele description [Variation Report for NM_004360.5(CDH1):c.56C>G (p.Ser19Cys)]

NM_004360.5(CDH1):c.56C>G (p.Ser19Cys)

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.56C>G (p.Ser19Cys)

HGVS:

NC_000016.10:g.68738304C>G
NG_008021.1:g.6013C>G
NM_001317184.2:c.56C>G
NM_001317185.2:c.-1560C>G
NM_001317186.2:c.-1764C>G
NM_004360.5:c.56C>GMANE SELECT
NP_001304113.1:p.Ser19Cys
NP_004351.1:p.Ser19Cys
LRG_301t1:c.56C>G
LRG_301:g.6013C>G
NC_000016.9:g.68772207C>G
NM_004360.3:c.56C>G
NM_004360.4:c.56C>G

Protein change:

S19C

Links:

dbSNP: rs1221633501

NCBI 1000 Genomes Browser:

rs1221633501

Molecular consequence:

NM_001317185.2:c.-1560C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001317186.2:c.-1764C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001317184.2:c.56C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004360.5:c.56C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Familial cancer of breast
Synonyms:: BREAST CANCER, FAMILIAL; Hereditary breast cancer; hereditary breast carcinoma
Identifiers:: MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

Name:: Blepharocheilodontic syndrome 1 (BCDS1)
Identifiers:: MONDO: MONDO:0054740; MedGen: C4551988; Orphanet: 1997; OMIM: 119580

Name:: Endometrial carcinoma
Synonyms:: Endometrial carcinoma, somatic
Identifiers:: MONDO: MONDO:0002447; MedGen: C0476089; OMIM: 608089; Human Phenotype Ontology: HP:0012114

Name:: Hereditary diffuse gastric adenocarcinoma (HDGC)
Synonyms:: DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME
Identifiers:: MONDO: MONDO:0007648; MedGen: C1708349; Orphanet: 26106; OMIM: 137215

Name:: Ovarian cancer
Synonyms:: OVARIAN CANCER, SOMATIC
Identifiers:: MONDO: MONDO:0008170; MedGen: C1140680; OMIM: 167000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005644330	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 19, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005644330

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 19, 2024)

germline

clinical testing

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

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV005644330.1

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

#	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: Oct 5, 2025

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