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NM_004360.5(CDH1):c.76G>C (p.Glu26Gln) AND CDH1-related diffuse gastric and lobular breast cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 2, 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:
RCV003328282.1

Allele description [Variation Report for NM_004360.5(CDH1):c.76G>C (p.Glu26Gln)]

NM_004360.5(CDH1):c.76G>C (p.Glu26Gln)

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.76G>C (p.Glu26Gln)
Other names:
NM_004360.5(CDH1):c.76G>C; p.Glu26Gln
HGVS:
  • NC_000016.10:g.68738324G>C
  • NG_008021.1:g.6033G>C
  • NM_001317184.2:c.76G>C
  • NM_001317185.2:c.-1540G>C
  • NM_001317186.2:c.-1744G>C
  • NM_004360.5:c.76G>CMANE SELECT
  • NP_001304113.1:p.Glu26Gln
  • NP_004351.1:p.Glu26Gln
  • LRG_301t1:c.76G>C
  • LRG_301:g.6033G>C
  • NC_000016.9:g.68772227G>C
  • NM_004360.3:c.76G>C
  • NM_004360.4:c.76G>C
Protein change:
E26Q
Links:
dbSNP: rs786201058
NCBI 1000 Genomes Browser:
rs786201058
Molecular consequence:
  • NM_001317185.2:c.-1540G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317186.2:c.-1744G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317184.2:c.76G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004360.5:c.76G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004035083ClinGen CDH1 Variant Curation Expert Panel
reviewed by expert panel

(ClinGen CDH1 ACMG Specifications V3.1)		Uncertain significance
(Aug 2, 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, SCV004035083.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The c.76G>C (NM_004360.5) variant in CDH1 is a missense variant predicted to predicted to cause substitution of Glu by Gln at amino acid 26 (p.Glu26Gln) in exon 2. This allele is absent from populations in gnomAD V2.1.1 (PM2_Supporting). This variant has been observed in at least three individuals without DGC, SRC tumours and LBC and whose families do not suggest HDGC (BS2_Supporting). This variant was reported in one individual with diffuse gastric cancer at 70 years without a family history of gastric cancer (PMID: 32241597). In summary, this variant is classified as uncertain significance for DGLBCS based on the ACMG/AMP criteria applied, as specified by the ClinGen CDH1 VCEP: PM2_Supporting, BS2_Supporting. (CDH1 VCEP specifications version 3.1; 04/24/2023)

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

Last Updated: Sep 29, 2024