NM_004360.5(CDH1):c.2344G>A (p.Val782Met) AND Hereditary diffuse gastric adenocarcinoma

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 2, 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:: RCV001897522.4

Allele description [Variation Report for NM_004360.5(CDH1):c.2344G>A (p.Val782Met)]

NM_004360.5(CDH1):c.2344G>A (p.Val782Met)

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.2344G>A (p.Val782Met)

HGVS:

NC_000016.10:g.68829702G>A
NG_008021.1:g.97411G>A
NM_001317184.2:c.2161G>A
NM_001317185.2:c.796G>A
NM_001317186.2:c.379G>A
NM_004360.5:c.2344G>AMANE SELECT
NP_001304113.1:p.Val721Met
NP_001304114.1:p.Val266Met
NP_001304115.1:p.Val127Met
NP_004351.1:p.Val782Met
LRG_301:g.97411G>A
NC_000016.9:g.68863605G>A

Protein change:

V127M

Links:

dbSNP: rs2152142305

NCBI 1000 Genomes Browser:

rs2152142305

Molecular consequence:

NM_001317184.2:c.2161G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001317185.2:c.796G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001317186.2:c.379G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004360.5:c.2344G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary diffuse gastric adenocarcinoma (HDGC)
Synonyms:: Hereditary diffuse gastric cancer
Identifiers:: MONDO: MONDO:0007648; MedGen: C1708349; Orphanet: 26106; OMIM: 137215

Recent activity

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Chromosome neighbors for GEO Profiles (Select 13265343) (19)
GEO Profiles
Full text in PMC (nucleotide) for Gene (Select 10908) (124)
PMC
dbVar for Gene (Select 10908) (213)
dbVar
patatin-like phospholipase domain-containing protein 6 isoform b [Homo sapiens]
patatin-like phospholipase domain-containing protein 6 isoform b [Homo sapiens]
gi|260656041|ref|NP_001159585.1|

Protein
PHAF1 phagophore assembly factor 1 [Homo sapiens]
PHAF1 phagophore assembly factor 1 [Homo sapiens]
Gene ID:80262

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002149213	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 2, 2021)	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

SCV002149213

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 2, 2021)

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002149213.3

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with CDH1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with methionine at codon 782 of the CDH1 protein (p.Val782Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine.

#	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: Sep 29, 2024

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