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NM_004360.5(CDH1):c.1711+5G>A AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 30, 2017
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:
RCV000492288.10

Allele description [Variation Report for NM_004360.5(CDH1):c.1711+5G>A]

NM_004360.5(CDH1):c.1711+5G>A

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.1711+5G>A
HGVS:
  • NC_000016.10:g.68819430G>A
  • NG_008021.1:g.87139G>A
  • NM_001317184.2:c.1528+5G>A
  • NM_001317185.2:c.163+5G>A
  • NM_001317186.2:c.-254-2571G>A
  • NM_004360.5:c.1711+5G>AMANE SELECT
  • LRG_301t1:c.1711+5G>A
  • LRG_301:g.87139G>A
  • NC_000016.9:g.68853333G>A
  • NM_004360.3:c.1711+5G>A
Links:
dbSNP: rs1131690818
NCBI 1000 Genomes Browser:
rs1131690818
Molecular consequence:
  • NM_001317184.2:c.1528+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001317185.2:c.163+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001317186.2:c.-254-2571G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004360.5:c.1711+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000580708Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Oct 30, 2017) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A short guide to hereditary diffuse gastric cancer.

Guilford P, Blair V, More H, Humar B.

Hered Cancer Clin Pract. 2007 Dec 15;5(4):183-94. doi: 10.1186/1897-4287-5-4-183.

PubMed [citation]
PMID:
19725995
PMCID:
PMC2736978

Details of each submission

From Ambry Genetics, SCV000580708.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.1711+5G>A intronic pathogenic mutation results from a G to A substitution 5 nucleotides after coding exon 11 in the CDH1 gene. This alteration, referred to as IVS11+5G>A, was reported in an individual diagnosed with diffuse gastric cancer at age 48 who had two family members with confirmed diffuse gastric cancer both at age 44 and five family members with breast cancer, one of which was confirmed as lobular. Additional RT-PCR analyses indicated that this alteration led to exon 11 skipping (Brooks-Wilson AR et al. J Med Genet. 2004 Jul;41(7):508-17). This nucleotide position is highly conserved in available vertebrate species. Based on the available evidence, c.1711+5G>A is classified as a pathogenic mutation.

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

Last Updated: Oct 20, 2024