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NM_004360.5(CDH1):c.1590dup (p.Asn531fs) AND DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2001
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004579550.1

Allele description

NM_004360.5(CDH1):c.1590dup (p.Asn531fs)

Gene:
CDH1:cadherin 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_004360.5(CDH1):c.1590dup (p.Asn531fs)
HGVS:
  • NC_000016.10:g.68819304dup
  • NG_008021.1:g.87013dup
  • NM_001317184.2:c.1407dup
  • NM_001317185.2:c.42dup
  • NM_001317186.2:c.-254-2697dup
  • NM_004360.5:c.1590dupMANE SELECT
  • NP_001304113.1:p.Asn470fs
  • NP_001304114.1:p.Asn15fs
  • NP_004351.1:p.Asn531fs
  • LRG_301t1:c.1590dup
  • LRG_301:g.87013dup
  • NC_000016.9:g.68853205_68853206insC
  • NC_000016.9:g.68853207dup
  • NM_004360.3:c.1590dupC
  • NM_004360.5(CDH1):c.1590dupMANE SELECT
  • p.Asn531fs
Protein change:
N15fs
Links:
OMIM: 192090.0014; dbSNP: rs1555516535
NCBI 1000 Genomes Browser:
rs1555516535
Molecular consequence:
  • NM_001317184.2:c.1407dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001317185.2:c.42dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004360.5:c.1590dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001317186.2:c.-254-2697dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000033275OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 2001) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer.

Guilford PJ, Hopkins JB, Grady WM, Markowitz SD, Willis J, Lynch H, Rajput A, Wiesner GL, Lindor NM, Burgart LJ, Toro TT, Lee D, Limacher JM, Shaw DW, Findlay MP, Reeve AE.

Hum Mutat. 1999;14(3):249-55.

PubMed [citation]
PMID:
10477433

Germline E-cadherin gene mutations: is prophylactic total gastrectomy indicated?

Chun YS, Lindor NM, Smyrk TC, Petersen BT, Burgart LJ, Guilford PJ, Donohue JH.

Cancer. 2001 Jul 1;92(1):181-7. Review.

PubMed [citation]
PMID:
11443625

Details of each submission

From OMIM, SCV000033275.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a family segregating diffuse gastric cancer (DGLBC; 137215), Guilford et al. (1999) identified a 1-bp insertion (1588insC) in exon 11 of the CDH1 gene. Chun et al. (2001) reported total gastrectomy as a prophylactic intervention in all 5 affected members of a family with diffuse gastric cancer and the 1588insC mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 14, 2024