NM_004360.4(CDH1):c.892G>A (p.Ala298Thr) AND Hereditary cancer-predisposing syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Dec 2, 2016
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000115865.5

Allele description

NM_004360.4(CDH1):c.892G>A (p.Ala298Thr)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

Preferred name:

NM_004360.4(CDH1):c.892G>A (p.Ala298Thr)

Other names:

p.A298T:GCC>ACC

HGVS:

NC_000016.10:g.68811743G>A
NG_008021.1:g.79452G>A
NM_001317185.1:c.-724G>A
NM_004360.4:c.892G>A
NP_004351.1:p.Ala298Thr
LRG_301t1:c.892G>A
LRG_301:g.79452G>A
LRG_301p1:p.Ala298Thr
NC_000016.9:g.68845646G>A
NM_004360.3:c.892G>A
p.A298T

Protein change:

A298T

Links:

dbSNP: rs142822590

GMAF:

0.0004(A), 142822590

NCBI 1000 Genomes Browser:

rs142822590

Allele Frequency:

0.0002, GO-ESP

Molecular consequence:

NM_001317185.1:c.-724G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_004360.4:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:: MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000183821	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (10/2015))	Likely benign (Dec 2, 2016)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 16924464, 24373500, 24204729, 15235021, 19268661, 22703879, 25637381, 27153395 Citation Link,
SCV000537418	Color	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Dec 8, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000183821

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))

Likely benign
(Dec 2, 2016)

germline

clinical testing

PubMed (8)
[See all records that cite these PMIDs]

Citation Link,

SCV000537418

Color

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Dec 8, 2015)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

A model to infer the pathogenic significance of CDH1 germline missense variants.

Suriano G, Seixas S, Rocha J, Seruca R.

J Mol Med (Berl). 2006 Dec;84(12):1023-31. Epub 2006 Aug 16.

PubMed [citation]

PMID:: 16924464

Multiplex genetic cancer testing identifies pathogenic mutations in TP53 and CDH1 in a patient with bilateral breast and endometrial adenocarcinoma.

Heitzer E, Lax S, Lafer I, Müller SM, Pristauz G, Ulz P, Jahn S, Högenauer C, Petru E, Speicher MR, Geigl JB.

BMC Med Genet. 2013 Dec 29;14:129. doi: 10.1186/1471-2350-14-129.

PubMed [citation]

PMID:: 24373500
PMCID:: PMC3913615

See all PubMed Citations (9)

Details of each submission

From Ambry Genetics, SCV000183821.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (8)

Description

Lines of evidence used in support of classification: Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,Other data supporting benign classification,Other strong data supporting benign classification,Does not segregate with disease in family study (genes with incomplete penetrance)

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

From Color, SCV000537418.1

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

#	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 10, 2018

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