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NM_004360.5(CDH1):c.2594G>A (p.Trp865Ter) AND CDH1-related diffuse gastric and lobular breast cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 4, 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:
RCV003328438.2

Allele description [Variation Report for NM_004360.5(CDH1):c.2594G>A (p.Trp865Ter)]

NM_004360.5(CDH1):c.2594G>A (p.Trp865Ter)

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.2594G>A (p.Trp865Ter)
HGVS:
  • NC_000016.10:g.68833444G>A
  • NG_008021.1:g.101153G>A
  • NM_001317184.2:c.2411G>A
  • NM_001317185.2:c.1046G>A
  • NM_001317186.2:c.629G>A
  • NM_004360.5:c.2594G>AMANE SELECT
  • NP_001304113.1:p.Trp804Ter
  • NP_001304114.1:p.Trp349Ter
  • NP_001304115.1:p.Trp210Ter
  • NP_004351.1:p.Trp865Ter
  • LRG_301t1:c.2594G>A
  • LRG_301:g.101153G>A
  • NC_000016.9:g.68867347G>A
  • NC_000016.9:g.68867347G>A
  • NM_004360.3:c.2594G>A
  • NM_004360.4(CDH1):c.2594G>A
  • p.Trp865Ter
Protein change:
W210*
Links:
dbSNP: rs1555518270
NCBI 1000 Genomes Browser:
rs1555518270
Molecular consequence:
  • NM_001317184.2:c.2411G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001317185.2:c.1046G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001317186.2:c.629G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004360.5:c.2594G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV001142258ClinGen CDH1 Variant Curation Expert Panel
reviewed by expert panel

(ClinGen CDH1 ACMG Specifications V3.1)		Uncertain significance
(Aug 4, 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, SCV001142258.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The c.2594G>A p.(Trp865Ter) variant is predicted to result in a premature stop codon that leads to a truncated protein. However, it is located within the nonsense mediated decay resistance region and is downstream of the most 3' pathogenic variant, c.2506G>T p.(Glu836Ter), PVS1_Moderate. This variant is absent in the gnomAD cohort (PM2_Supporting; http://gnomad.broadinstitute.org). In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the CDH1 Variant Curation Expert Panel (CDH1 VCEP specifications version 3.1): PVS1_Moderate, PM2_Supporting.

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

Last Updated: Sep 29, 2024