NM_004360.5(CDH1):c.671G>A (p.Arg224His) AND Ovarian cancer

Germline classification:: Likely benign (1 submission)
Last evaluated:: Mar 6, 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:: RCV005357257.1

Allele description [Variation Report for NM_004360.5(CDH1):c.671G>A (p.Arg224His)]

NM_004360.5(CDH1):c.671G>A (p.Arg224His)

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.671G>A (p.Arg224His)

Other names:

NM_004360.5(CDH1):c.671G>A

HGVS:

NC_000016.10:g.68808832G>A
NG_008021.1:g.76541G>A
NM_001317184.2:c.671G>A
NM_001317185.2:c.-945G>A
NM_001317186.2:c.-1149G>A
NM_004360.5:c.671G>AMANE SELECT
NP_001304113.1:p.Arg224His
NP_004351.1:p.Arg224His
LRG_301t1:c.671G>A
LRG_301:g.76541G>A
NC_000016.9:g.68842735G>A
NM_004360.3:c.671G>A
NM_004360.4:c.671G>A
p.R224H

Protein change:

R224H

Links:

dbSNP: rs201511530

Molecular consequence:

NM_001317185.2:c.-945G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001317186.2:c.-1149G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001317184.2:c.671G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004360.5:c.671G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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
SCV005916242	Department of Pathology and Laboratory Medicine, Sinai Health System	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Mar 6, 2024)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 26580448, 26689913, 29522266, 22703879, 33471991, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005916242

Department of Pathology and Laboratory Medicine, Sinai Health System

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Mar 6, 2024)

germline

clinical testing

PubMed (6)
[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

Germline Mutations in Predisposition Genes in Pediatric Cancer.

Zhang J, Walsh MF, Wu G, Edmonson MN, Gruber TA, Easton J, Hedges D, Ma X, Zhou X, Yergeau DA, Wilkinson MR, Vadodaria B, Chen X, McGee RB, Hines-Dowell S, Nuccio R, Quinn E, Shurtleff SA, Rusch M, Patel A, Becksfort JB, Wang S, et al.

N Engl J Med. 2015 Dec 10;373(24):2336-2346. doi: 10.1056/NEJMoa1508054. Epub 2015 Nov 18.

PubMed [citation]

PMID:: 26580448
PMCID:: PMC4734119

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C, Xie M, Wendl MC, Wang J, McLellan MD, Leiserson MD, Huang KL, Wyczalkowski MA, Jayasinghe R, Banerjee T, Ning J, Tripathi P, Zhang Q, Niu B, Ye K, Schmidt HK, Fulton RS, McMichael JF, Batra P, Kandoth C, Bharadwaj M, Koboldt DC, et al.

Nat Commun. 2015 Dec 22;6:10086. doi: 10.1038/ncomms10086.

PubMed [citation]

PMID:: 26689913
PMCID:: PMC4703835

See all PubMed Citations (6)

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System, SCV005916242.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

#	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: Apr 12, 2026

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