U.S. flag

An official website of the United States government

NM_004360.5(CDH1):c.112A>C (p.Thr38Pro) 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:
RCV003328427.1

Allele description [Variation Report for NM_004360.5(CDH1):c.112A>C (p.Thr38Pro)]

NM_004360.5(CDH1):c.112A>C (p.Thr38Pro)

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.112A>C (p.Thr38Pro)
Other names:
NM_004360.5(CDH1):c.112A>C; p.Thr38Pro
HGVS:
  • NC_000016.10:g.68738360A>C
  • NG_008021.1:g.6069A>C
  • NM_001317184.2:c.112A>C
  • NM_001317185.2:c.-1504A>C
  • NM_001317186.2:c.-1708A>C
  • NM_004360.5:c.112A>CMANE SELECT
  • NP_001304113.1:p.Thr38Pro
  • NP_004351.1:p.Thr38Pro
  • LRG_301t1:c.112A>C
  • LRG_301:g.6069A>C
  • NC_000016.9:g.68772263A>C
  • NM_004360.3:c.112A>C
  • NM_004360.4:c.112A>C
Protein change:
T38P
Links:
dbSNP: rs786203442
NCBI 1000 Genomes Browser:
rs786203442
Molecular consequence:
  • NM_001317185.2:c.-1504A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317186.2:c.-1708A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317184.2:c.112A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004360.5:c.112A>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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004035082ClinGen CDH1 Variant Curation Expert Panel
reviewed by expert panel

(ClinGen CDH1 ACMG Specifications V3.1)		Uncertain significance
(Aug 2, 2023) 		germlinecuration

Citation Link

Help

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, SCV004035082.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The c.112A>C (NM_004360.5) variant in CDH1 is a missense variant predicted to cause substitution in exon 2 (p.Thr38Pro). This variant was observed in seven individuals with no DGC, LBC or SRC tumours and whose families do not suggest HDGC (BS2_Supporting; Invitae). Note that this includes two individuals with a family history of stomach cancer NOS. This variant is absent from gnomAD 2.1.1 (PM2_Spporting). 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