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NM_004360.5(CDH1):c.208dup (p.Ser70fs) AND CDH1-related diffuse gastric and lobular breast cancer syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 29, 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:
RCV003328396.2

Allele description [Variation Report for NM_004360.5(CDH1):c.208dup (p.Ser70fs)]

NM_004360.5(CDH1):c.208dup (p.Ser70fs)

Gene:
CDH1:cadherin 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_004360.5(CDH1):c.208dup (p.Ser70fs)
HGVS:
  • NC_000016.10:g.68801714dup
  • NG_008021.1:g.69423dup
  • NM_001317184.2:c.208dup
  • NM_001317185.2:c.-1408dup
  • NM_001317186.2:c.-1612dup
  • NM_004360.4:c.208dup
  • NM_004360.5:c.208dupMANE SELECT
  • NP_001304113.1:p.Ser70fs
  • NP_004351.1:p.Ser70fs
  • LRG_301t1:c.208dup
  • LRG_301:g.69423dup
  • NC_000016.9:g.68835612_68835613insT
  • NC_000016.9:g.68835617dup
  • NM_004360.3:c.208dupT
  • NM_004360.4(CDH1):c.208dup
  • p.Ser70Phefs
Protein change:
S70fs
Links:
dbSNP: rs1555514406
NCBI 1000 Genomes Browser:
rs1555514406
Molecular consequence:
  • NM_001317185.2:c.-1408dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317186.2:c.-1612dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317184.2:c.208dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004360.5:c.208dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001142231ClinGen CDH1 Variant Curation Expert Panel
reviewed by expert panel

(ClinGen CDH1 ACMG Specifications V3.1)		Pathogenic
(Aug 29, 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, SCV001142231.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The c.208dup p.(Ser70Phefs) variant is predicted to result in a premature stop codon that leads to a truncated or absent protein (PVS1, PM5_Supporting). The variant is absent in the gnomAD cohort (PM2_Supporting; http://gnomad.broadinstitute.org). This variant has been reported in at least two family meeting HDGC clinical criteria (PS4_Moderate; SCV000637771.2, SCV000779081.2). 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, PM2_Supporting, PS4_Moderate, PM5_Supporting.

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

Last Updated: Sep 29, 2024