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NM_004360.5(CDH1):c.1008G>T (p.Glu336Asp) AND CDH1-related diffuse gastric and lobular breast cancer syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 28, 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:
RCV003328159.2

Allele description [Variation Report for NM_004360.5(CDH1):c.1008G>T (p.Glu336Asp)]

NM_004360.5(CDH1):c.1008G>T (p.Glu336Asp)

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.1008G>T (p.Glu336Asp)
Other names:
NM_004360.4(CDH1):c.1008G>T
HGVS:
  • NC_000016.10:g.68811859G>T
  • NG_008021.1:g.79568G>T
  • NM_001317184.2:c.1008G>T
  • NM_001317185.2:c.-608G>T
  • NM_001317186.2:c.-812G>T
  • NM_004360.5:c.1008G>TMANE SELECT
  • NP_001304113.1:p.Glu336Asp
  • NP_004351.1:p.Glu336Asp
  • LRG_301t1:c.1008G>T
  • LRG_301:g.79568G>T
  • NC_000016.9:g.68845762G>T
  • NM_004360.3:c.1008G>T
  • P12830:p.Glu336Asp
Nucleotide change:
1008G-T
Protein change:
E336D
Links:
UniProtKB: P12830#VAR_001310; OMIM: 192090.0005; dbSNP: rs267606712
NCBI 1000 Genomes Browser:
rs267606712
Molecular consequence:
  • NM_001317185.2:c.-608G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317186.2:c.-812G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317184.2:c.1008G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004360.5:c.1008G>T - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000864583ClinGen CDH1 Variant Curation Expert Panel
reviewed by expert panel

(ClinGen CDH1 ACMG Specifications V3.1)		Likely pathogenic
(Aug 28, 2023) 		germlinecuration

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 providedcuration

Citations

PubMed

E-cadherin germline mutations in familial gastric cancer.

Guilford P, Hopkins J, Harraway J, McLeod M, McLeod N, Harawira P, Taite H, Scoular R, Miller A, Reeve AE.

Nature. 1998 Mar 26;392(6674):402-5.

PubMed [citation]
PMID:
9537325

Details of each submission

From ClinGen CDH1 Variant Curation Expert Panel, SCV000864583.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

The c.1008G>T (p.Glu336Asp) variant results in a G to non-G change at the last nucleotide of an exon (PVS1_Moderate). This variant is absent in the gnomAD cohort (PM2_Supporting; http://gnomad.broadinstitute.org). There is an RNA assay demonstrating an abnormal out-of-frame transcript for this variant (PS3; PMID: 9537325). Additionally, the variant has also been reported in at least one family meeting HDGC clinical criteria (PS4_Supporting; PMID: 9537325). In summary, this variant meets criteria to be classified as pathogenic based on the ACMG/AMP criteria applied as specified by the CDH1 Variant Curation Expert Panel (Variant Interpretation Guidelines Version 3.1): PVS1_Moderate, PM2_Supporting, PS3, PS4_Supporting.

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

Last Updated: Nov 10, 2024