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NM_004360.5(CDH1):c.1711+5G>A AND CDH1-related diffuse gastric and lobular breast cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 3, 2023
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV003328378.1

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:
CDH1-related diffuse gastric and lobular breast cancer syndrome
Synonyms:
CDH1-related diffuse gastric and lobular breast cancer
Identifiers:
MONDO: MONDO:0100488; MedGen: CN311521

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004035105ClinGen CDH1 Variant Curation Expert Panel
reviewed by expert panel

(ClinGen CDH1 ACMG Specifications V3.1)		Uncertain significance
(Aug 3, 2023) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From ClinGen CDH1 Variant Curation Expert Panel, SCV004035105.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The c.1711+5G>A variant in CDH1 is an intronic variant which switches a G to an A in the +5 position of intron 11. This variant is known in five families, three of which meet HDGC criteria (PS4_moderate; PMID: 15235021, AmbryGenetics, Invitae, Color and CeTaG internal data). This variant is completely absent from population databases such as gnomAD (PM2_supporting). There is evidence of abnormal RNA expression of this variant allele as a functional consequence of incorrect slicing, but further studies are required to confirm this evidence (PS3_supporting; PMID: 15235021). In summary, this variant is classified as a variant of uncertain significance. ACMG/AMP criteria applied, as specified by the ClinGen CDH1 Variant Curation Expert Panel: PS3_supporting, PS4_moderate, PM2_supporting. (CDH1 VCEP specifications version 3.1; 06/26/2023)

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

Last Updated: Oct 20, 2024