NM_004360.5(CDH1):c.377C>T (p.Pro126Leu) AND not provided

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Dec 9, 2021
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:: RCV000679573.13

Allele description [Variation Report for NM_004360.5(CDH1):c.377C>T (p.Pro126Leu)]

NM_004360.5(CDH1):c.377C>T (p.Pro126Leu)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

Preferred name:

NM_004360.5(CDH1):c.377C>T (p.Pro126Leu)

HGVS:

NC_000016.10:g.68801883C>T
NG_008021.1:g.69592C>T
NM_001317184.2:c.377C>T
NM_001317185.2:c.-1239C>T
NM_001317186.2:c.-1443C>T
NM_004360.5:c.377C>TMANE SELECT
NP_001304113.1:p.Pro126Leu
NP_004351.1:p.Pro126Leu
LRG_301t1:c.377C>T
LRG_301:g.69592C>T
NC_000016.9:g.68835786C>T
NM_004360.3:c.377C>T
NM_004360.4:c.377C>T
p.P126L

Protein change:

P126L

Links:

dbSNP: rs746703615

NCBI 1000 Genomes Browser:

rs746703615

Molecular consequence:

NM_001317185.2:c.-1239C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001317186.2:c.-1443C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001317184.2:c.377C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_004360.5:c.377C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000618344	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Dec 9, 2021)	germline	clinical testing	Citation Link,
SCV000806667	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 13, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001470280	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Mar 26, 2021)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 31871109, 28640387, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000618344

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Dec 9, 2021)

germline

clinical testing

Citation Link,

SCV000806667

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 13, 2017)

germline

clinical testing

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

SCV001470280

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Mar 26, 2021)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Prevalence of Inherited Mutations in Breast Cancer Predisposition Genes among Women in Uganda and Cameroon.

Adedokun B, Zheng Y, Ndom P, Gakwaya A, Makumbi T, Zhou AY, Yoshimatsu TF, Rodriguez A, Madduri RK, Foster IT, Sallam A, Olopade OI, Huo D.

Cancer Epidemiol Biomarkers Prev. 2020 Feb;29(2):359-367. doi: 10.1158/1055-9965.EPI-19-0506. Epub 2019 Dec 23.

PubMed [citation]

PMID:: 31871109
PMCID:: PMC7007381

See all PubMed Citations (4)

Details of each submission

From GeneDx, SCV000618344.3

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

Description

In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an individual with colorectal cancer who also carried a pathogenic variant in MSH2 (Ricker 2017); This variant is associated with the following publications: (PMID: 31871109, 28640387)

#	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

From PreventionGenetics, part of Exact Sciences, SCV000806667.1

#	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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001470280.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	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: Sep 8, 2024

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