NM_000251.3(MSH2):c.793-2_943-14del AND not provided

Germline classification:: Pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001358337.1

Allele description [Variation Report for NM_000251.3(MSH2):c.793-2_943-14del]

NM_000251.3(MSH2):c.793-2_943-14del

Gene:

MSH2:mutS homolog 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.793-2_943-14del

HGVS:

NC_000002.12:g.47414267_47416282del
NG_007110.2:g.16144_18159del
NM_000251.3:c.793-2_943-14delMANE SELECT
NM_001258281.1:c.595-2_745-14del
LRG_218:g.16144_18159del
NC_000002.11:g.47641406_47643421del

Molecular consequence:

NM_000251.3:c.793-2_943-14del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001258281.1:c.595-2_745-14del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_000251.3:c.793-2_943-14del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001258281.1:c.595-2_745-14del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001554041	Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR) See additional submitters Franklin by Genoox	no assertion criteria provided	Pathogenic	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001554041

Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided

Pathogenic

unknown

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001554041.1

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

Description

the c.793-?_2805+? deletion is predicted to cause a truncated or absent protein and loss of function. Loss of function variants are an established mechanism of disease for the MSH2 gene and is expected to cause the disorder. Therefore, further investigation of the aforementioned anomaly is not required. In summary, this deletion is classified as pathogenic.

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

Last Updated: Mar 26, 2023

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