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NM_004360.5(CDH1):c.414_415dup (p.Leu139fs) AND Hereditary diffuse gastric adenocarcinoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 15, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003334769.2

Allele description [Variation Report for NM_004360.5(CDH1):c.414_415dup (p.Leu139fs)]

NM_004360.5(CDH1):c.414_415dup (p.Leu139fs)

Gene:
CDH1:cadherin 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_004360.5(CDH1):c.414_415dup (p.Leu139fs)
HGVS:
  • NC_000016.10:g.68808450_68808451dup
  • NG_008021.1:g.76159_76160dup
  • NM_001317184.2:c.414_415dup
  • NM_001317185.2:c.-1202_-1201dup
  • NM_001317186.2:c.-1406_-1405dup
  • NM_004360.5:c.414_415dupMANE SELECT
  • NP_001304113.1:p.Leu139fs
  • NP_004351.1:p.Leu139Tyrfs
  • NP_004351.1:p.Leu139fs
  • LRG_301t1:c.414_415dup
  • LRG_301:g.76159_76160dup
  • LRG_301p1:p.Leu139Tyrfs
  • NC_000016.9:g.68842353_68842354dup
  • NM_004360.3:c.414_415dup
Protein change:
L139fs
Molecular consequence:
  • NM_001317185.2:c.-1202_-1201dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317186.2:c.-1406_-1405dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317184.2:c.414_415dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004360.5:c.414_415dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hereditary diffuse gastric adenocarcinoma (HDGC)
Synonyms:
Hereditary diffuse gastric cancer
Identifiers:
MONDO: MONDO:0007648; MedGen: C1708349; Orphanet: 26106; OMIM: 137215

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004043929Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Jun 15, 2023) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004043929.2

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

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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

Last Updated: Oct 28, 2023