NM_004360.5(CDH1):c.830del (p.Pro277fs) AND Hereditary diffuse gastric adenocarcinoma

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 12, 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:: RCV003334722.2

Allele description [Variation Report for NM_004360.5(CDH1):c.830del (p.Pro277fs)]

NM_004360.5(CDH1):c.830del (p.Pro277fs)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

16q22.1

Genomic location:

Preferred name:

NM_004360.5(CDH1):c.830del (p.Pro277fs)

HGVS:

NC_000016.10:g.68810339del
NG_008021.1:g.78048del
NM_001317184.2:c.830del
NM_001317185.2:c.-786del
NM_001317186.2:c.-990del
NM_004360.5:c.830delMANE SELECT
NP_001304113.1:p.Pro277fs
NP_004351.1:p.Pro277Glnfs
NP_004351.1:p.Pro277fs
LRG_301t1:c.830del
LRG_301:g.78048del
LRG_301p1:p.Pro277Glnfs
NC_000016.9:g.68844242del
NM_004360.3:c.830delC

Protein change:

P277fs

Molecular consequence:

NM_001317185.2:c.-786del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001317186.2:c.-990del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001317184.2:c.830del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004360.5:c.830del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hereditary diffuse gastric adenocarcinoma (HDGC)
Synonyms:: DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME
Identifiers:: MONDO: MONDO:0007648; MedGen: C1708349; Orphanet: 26106; OMIM: 137215

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004043849	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Jun 12, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004043849

Myriad Genetics, Inc.

criteria provided, single submitter

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

Pathogenic
(Jun 12, 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., SCV004043849.2

#	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: Dec 22, 2024

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