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NM_004360.5(CDH1):c.832+1G>T AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 27, 2021
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:
RCV002411045.3

Allele description [Variation Report for NM_004360.5(CDH1):c.832+1G>T]

NM_004360.5(CDH1):c.832+1G>T

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.832+1G>T
Other names:
NM_004360.4(CDH1):c.832+1G>T
HGVS:
  • NC_000016.10:g.68810342G>T
  • NG_008021.1:g.78051G>T
  • NM_001317184.2:c.832+1G>T
  • NM_001317185.2:c.-784+1G>T
  • NM_001317186.2:c.-988+1G>T
  • NM_004360.5:c.832+1G>TMANE SELECT
  • LRG_301t1:c.832+1G>T
  • LRG_301:g.78051G>T
  • NC_000016.9:g.68844245G>T
  • NC_000016.9:g.68844245G>T
  • NM_004360.3:c.832+1G>T
  • NM_004360.4:c.832+1G>T
Links:
dbSNP: rs878854697
NCBI 1000 Genomes Browser:
rs878854697
Molecular consequence:
  • NM_001317184.2:c.832+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001317185.2:c.-784+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001317186.2:c.-988+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004360.5:c.832+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV002675308Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(May 27, 2021) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Cleft lip, cleft palate, hereditary diffuse gastric cancer and germline mutations in CDH1.

Benusiglio PR, Caron O, Consolino E, Duvillard P, Coulet F, Blayau M, Malka D.

Int J Cancer. 2013 May 15;132(10):2470. doi: 10.1002/ijc.27923. Epub 2012 Nov 16. No abstract available.

PubMed [citation]
PMID:
23124477

CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study.

Benusiglio PR, Malka D, Rouleau E, De Pauw A, Buecher B, Noguès C, Fourme E, Colas C, Coulet F, Warcoin M, Grandjouan S, Sezeur A, Laurent-Puig P, Molière D, Tlemsani C, Di Maria M, Byrde V, Delaloge S, Blayau M, Caron O.

J Med Genet. 2013 Jul;50(7):486-9. doi: 10.1136/jmedgenet-2012-101472. Epub 2013 May 25.

PubMed [citation]
PMID:
23709761
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002675308.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The c.832+1G>T intronic pathogenic mutation results from a G to T substitution one nucleotide after coding exon 6 of the CDH1 gene. This alteration has been reported in several individuals with a personal and/or family history that meets the clinical criteria for a diagnosis of hereditary diffuse gastric cancer syndrome (Benusiglio PR et al. J Med Genet. 2013 Jul;50:486-9; Benusiglio PR et al. Int. J. Cancer. 2013 May;132:2470; Hansford S et al. JAMA Oncol. 2015 Apr;1:23-32; Ambry internal data). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as pathogenic.

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

Last Updated: Sep 29, 2024