NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) AND multiple conditions

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 27, 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:: RCV005357114.1

Allele description [Variation Report for NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly)]

NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly)

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.2512A>G (p.Ser838Gly)

Other names:

p.S838G:AGC>GGC

HGVS:

NC_000016.10:g.68833362A>G
NG_008021.1:g.101071A>G
NM_001317184.2:c.2329A>G
NM_001317185.2:c.964A>G
NM_001317186.2:c.547A>G
NM_004360.5:c.2512A>GMANE SELECT
NP_001304113.1:p.Ser777Gly
NP_001304114.1:p.Ser322Gly
NP_001304115.1:p.Ser183Gly
NP_004351.1:p.Ser838Gly
LRG_301t1:c.2512A>G
LRG_301:g.101071A>G
NC_000016.9:g.68867265A>G
NM_004360.3:c.2512A>G
NM_004360.4:c.2512A>G
P12830:p.Ser838Gly
p.S838G
NM_004360.4(CDH1):c.2512A>G

Protein change:

S183G; SER838GLY

Links:

UniProtKB: P12830#VAR_001322; OMIM: 192090.0003; dbSNP: rs121964872

Molecular consequence:

NM_001317184.2:c.2329A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001317185.2:c.964A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001317186.2:c.547A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004360.5:c.2512A>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:: 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
SCV005916221	Department of Pathology and Laboratory Medicine, Sinai Health System	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Feb 27, 2024)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 33471991, 28767289, 29522266, 25186627, 25980754, 30426508, 31159747, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005916221

Department of Pathology and Laboratory Medicine, Sinai Health System

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Feb 27, 2024)

germline

clinical testing

PubMed (8)
[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	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

Breast Cancer Association Consortium, Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C, Pooley KA, Parsons MT, Fortuno C, Wang Q, Bolla MK, Dennis J, Keeman R, Alonso MR, Álvarez N, Herraez B, Fernandez V, Núñez-Torres R, Osorio A, Valcich J, Li M, et al.

N Engl J Med. 2021 Feb 4;384(5):428-439. doi: 10.1056/NEJMoa1913948. Epub 2021 Jan 20.

PubMed [citation]

PMID:: 33471991
PMCID:: PMC7611105

Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma.

Shindo K, Yu J, Suenaga M, Fesharakizadeh S, Cho C, Macgregor-Das A, Siddiqui A, Witmer PD, Tamura K, Song TJ, Navarro Almario JA, Brant A, Borges M, Ford M, Barkley T, He J, Weiss MJ, Wolfgang CL, Roberts NJ, Hruban RH, Klein AP, Goggins M.

J Clin Oncol. 2017 Oct 20;35(30):3382-3390. doi: 10.1200/JCO.2017.72.3502. Epub 2017 Aug 2.

PubMed [citation]

PMID:: 28767289
PMCID:: PMC5648172

See all PubMed Citations (8)

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System, SCV005916221.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (8)

#	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

Last Updated: Jun 20, 2026

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