NM_004360.5(CDH1):c.2474dup (p.Pro826fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 7, 2022
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:: RCV001584376.6

Allele description [Variation Report for NM_004360.5(CDH1):c.2474dup (p.Pro826fs)]

NM_004360.5(CDH1):c.2474dup (p.Pro826fs)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

16q22.1

Genomic location:

Preferred name:

NM_004360.5(CDH1):c.2474dup (p.Pro826fs)

Other names:

NM_004360.5(CDH1):c.2474dup; p.Pro826fs

HGVS:

NC_000016.10:g.68833324dup
NG_008021.1:g.101033dup
NM_001317184.2:c.2291dup
NM_001317185.2:c.926dup
NM_001317186.2:c.509dup
NM_004360.5:c.2474dupMANE SELECT
NP_001304113.1:p.Pro765fs
NP_001304114.1:p.Pro310fs
NP_001304115.1:p.Pro171fs
NP_004351.1:p.Pro826fs
LRG_301t1:c.2474dup
LRG_301:g.101033dup
NC_000016.9:g.68867223_68867224insC
NC_000016.9:g.68867227dup
NM_004360.3:c.2474dup
NM_004360.3:c.2474dupC

Protein change:

P171fs

Links:

dbSNP: rs1555518221

NCBI 1000 Genomes Browser:

rs1555518221

Molecular consequence:

NM_001317184.2:c.2291dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001317185.2:c.926dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001317186.2:c.509dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004360.5:c.2474dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001820694	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Oct 7, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001820694

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Oct 7, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001820694.3

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

Description

Frameshift variant in the C-terminus predicted to result in protein truncation, as the last 57 amino acids are lost and replaced with 2 incorrect amino acids (HGMD); Not observed in large population cohorts (gnomAD); Observed in an individual with lobular breast cancer (Krempely and Karam, 2018); This variant is associated with the following publications: (PMID: 20371349, 15235021, 22850631, 29798843)

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

Last Updated: Sep 29, 2024

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