NM_004360.5(CDH1):c.1004G>A (p.Arg335Gln) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 8, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000586292.3

Allele description [Variation Report for NM_004360.5(CDH1):c.1004G>A (p.Arg335Gln)]

NM_004360.5(CDH1):c.1004G>A (p.Arg335Gln)

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.1004G>A (p.Arg335Gln)
Other names:
p.R335Q:CGA>CAA
HGVS:
  • NC_000016.10:g.68811855G>A
  • NG_008021.1:g.79564G>A
  • NM_001317184.2:c.1004G>A
  • NM_001317185.2:c.-612G>A
  • NM_001317186.2:c.-816G>A
  • NM_004360.5:c.1004G>AMANE SELECT
  • NP_001304113.1:p.Arg335Gln
  • NP_004351.1:p.Arg335Gln
  • LRG_301t1:c.1004G>A
  • LRG_301:g.79564G>A
  • NC_000016.9:g.68845758G>A
  • NM_004360.3:c.1004G>A
  • NM_004360.4:c.1004G>A
  • p.R335Q
Protein change:
R335Q
Links:
dbSNP: rs373364873
NCBI 1000 Genomes Browser:
rs373364873
Molecular consequence:
  • NM_001317185.2:c.-612G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317186.2:c.-816G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317184.2:c.1004G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004360.5:c.1004G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000149741GeneDxcriteria provided, single submitter
Uncertain significance
(Oct 8, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000149741.15

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is denoted CDH1 c.1004G>A at the cDNA level, p.Arg335Gln (R335Q) at the protein level, and results in the change of an Arginine to a Glutamine (CGA>CAA). CDH1 Arg335Gln has been reported in at least one individual with colorectal cancer and no history of gastric cancer (Raskin 2017). CDH1 Arg335Gln was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is located in the Cadherin 2 extracellular domain (Brooks-Wilson 2004, Figueiredo 2013). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether CDH1 Arg335Gln is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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

Last Updated: Jun 14, 2021

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