NM_004360.5(CDH1):c.315del (p.Thr106fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 14, 2021
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:: RCV002323838.6

Allele description [Variation Report for NM_004360.5(CDH1):c.315del (p.Thr106fs)]

NM_004360.5(CDH1):c.315del (p.Thr106fs)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

16q22.1

Genomic location:

Preferred name:

NM_004360.5(CDH1):c.315del (p.Thr106fs)

HGVS:

NC_000016.10:g.68801821del
NG_008021.1:g.69530del
NM_001317184.2:c.315del
NM_001317185.2:c.-1301del
NM_001317186.2:c.-1505del
NM_004360.5:c.315delMANE SELECT
NP_001304113.1:p.Thr106fs
NP_004351.1:p.Thr106fs
LRG_301t1:c.315del
LRG_301:g.69530del
NC_000016.10:g.68801821delC
NC_000016.9:g.68835723del
NC_000016.9:g.68835724del
NM_004360.3:c.315delC
NM_004360.4(CDH1):c.315delC
p.Thr106Profs

Protein change:

T106fs

Links:

dbSNP: rs1064795703

NCBI 1000 Genomes Browser:

rs1064795703

Molecular consequence:

NM_001317185.2:c.-1301del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001317186.2:c.-1505del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001317184.2:c.315del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004360.5:c.315del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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
SCV002608472	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jun 14, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002608472

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jun 14, 2021)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002608472.2

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

Description

The c.315delC pathogenic mutation, located in coding exon 3 of the CDH1 gene, results from a deletion of one nucleotide at nucleotide position 315, causing a translational frameshift with a predicted alternate stop codon (p.T106Pfs*11). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Oct 26, 2024

ClinVar

Relating variation to medicine