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NM_004360.5(CDH1):c.121G>T (p.Val41Leu) 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:
RCV003328413.1

Allele description [Variation Report for NM_004360.5(CDH1):c.121G>T (p.Val41Leu)]

NM_004360.5(CDH1):c.121G>T (p.Val41Leu)

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.121G>T (p.Val41Leu)
Other names:
NM_004360.5(CDH1):c.121G>T; p.Val41Leu
HGVS:
  • NC_000016.10:g.68738369G>T
  • NG_008021.1:g.6078G>T
  • NM_001317184.2:c.121G>T
  • NM_001317185.2:c.-1495G>T
  • NM_001317186.2:c.-1699G>T
  • NM_004360.5:c.121G>TMANE SELECT
  • NP_001304113.1:p.Val41Leu
  • NP_004351.1:p.Val41Leu
  • LRG_301t1:c.121G>T
  • LRG_301:g.6078G>T
  • NC_000016.9:g.68772272G>T
  • NM_004360.3:c.121G>T
Protein change:
V41L
Links:
dbSNP: rs786202465
NCBI 1000 Genomes Browser:
rs786202465
Molecular consequence:
  • NM_001317185.2:c.-1495G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317186.2:c.-1699G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317184.2:c.121G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004360.5:c.121G>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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004035085ClinGen 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, SCV004035085.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The c.121G>T (NM_004360.5) variant in CDH1 is a missense variant predicted to predicted to cause substitution of Val by Leu at amino acid 41 (p.Val41Leu). This variant has been observed in Variant seen in >3 heterozygous individuals without GC, DGC, SRC tumours or LBC and whose families do not suggest HDGC (BS2_Supporting; Ambry, GeneDx, Invitae). This variant is absent from gnomAD 2.1.1 (PM2_Supporting). 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