NM_004360.5(CDH1):c.1629del (p.Thr544fs) AND Hereditary diffuse gastric adenocarcinoma

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 14, 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:: RCV003337029.2

Allele description [Variation Report for NM_004360.5(CDH1):c.1629del (p.Thr544fs)]

NM_004360.5(CDH1):c.1629del (p.Thr544fs)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

16q22.1

Genomic location:

Preferred name:

NM_004360.5(CDH1):c.1629del (p.Thr544fs)

HGVS:

NC_000016.10:g.68819343del
NG_008021.1:g.87052del
NM_001317184.2:c.1446del
NM_001317185.2:c.81del
NM_001317186.2:c.-254-2658del
NM_004360.5:c.1629delMANE SELECT
NP_001304113.1:p.Thr483fs
NP_001304114.1:p.Thr28fs
NP_004351.1:p.Thr544Leufs
NP_004351.1:p.Thr544fs
LRG_301t1:c.1629del
LRG_301:g.87052del
LRG_301p1:p.Thr544Leufs
NC_000016.9:g.68853246del
NM_004360.3:c.1629delC

Protein change:

T28fs

Molecular consequence:

NM_001317184.2:c.1446del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001317185.2:c.81del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004360.5:c.1629del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001317186.2:c.-254-2658del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004044500	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Jun 14, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004044500

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Pathogenic
(Jun 14, 2023)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Myriad Genetics, Inc., SCV004044500.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 28, 2023

ClinVar

Relating variation to medicine