NM_000535.7(PMS2):c.2276-91_2445+790del AND Lynch syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 5, 2013
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000076851.4

Allele description [Variation Report for NM_000535.7(PMS2):c.2276-91_2445+790del]

NM_000535.7(PMS2):c.2276-91_2445+790del

Gene:

PMS2:PMS1 homolog 2, mismatch repair system component [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7p22.1

Genomic location:

Preferred name:

NM_000535.7(PMS2):c.2276-91_2445+790del

HGVS:

NC_000007.14:g.5976806_5977856del
NG_008466.1:g.36259_37309del
NM_000535.7:c.2276-91_2445+790delMANE SELECT
NM_001322003.2:c.1871-91_2040+790del
NM_001322004.2:c.1871-91_2040+790del
NM_001322005.2:c.1871-91_2040+790del
NM_001322006.2:c.2120-91_2289+790del
NM_001322007.2:c.1958-91_2127+790del
NM_001322008.2:c.1958-91_2127+790del
NM_001322009.2:c.1871-58_2073+790del
NM_001322010.2:c.1715-91_1884+790del
NM_001322011.2:c.1343-91_1512+790del
NM_001322012.2:c.1343-91_1512+790del
NM_001322013.2:c.1703-91_1872+790del
NM_001322014.2:c.2276-58_2478+790del
NM_001322015.2:c.1967-91_2136+790del
LRG_161t1:c.2276-91_2445+790del
LRG_161:g.36259_37309del
NC_000007.13:g.6016437_6017487del
NM_000535.5:c.2276-91_2445+790del

Note:

1051-nt deletion of exon 14 plus flanking intronic sequences in gene PMS2.

Links:

Molecular consequence:

NM_000535.7:c.2276-91_2445+790del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001322003.2:c.1871-91_2040+790del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001322004.2:c.1871-91_2040+790del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001322005.2:c.1871-91_2040+790del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001322006.2:c.2120-91_2289+790del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001322007.2:c.1958-91_2127+790del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001322008.2:c.1958-91_2127+790del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001322009.2:c.1871-58_2073+790del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001322010.2:c.1715-91_1884+790del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001322011.2:c.1343-91_1512+790del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001322012.2:c.1343-91_1512+790del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001322013.2:c.1703-91_1872+790del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001322014.2:c.2276-58_2478+790del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001322015.2:c.1967-91_2136+790del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_000535.7:c.2276-91_2445+790del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001322003.2:c.1871-91_2040+790del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001322004.2:c.1871-91_2040+790del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001322005.2:c.1871-91_2040+790del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001322006.2:c.2120-91_2289+790del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001322007.2:c.1958-91_2127+790del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001322008.2:c.1958-91_2127+790del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001322009.2:c.1871-58_2073+790del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001322010.2:c.1715-91_1884+790del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001322011.2:c.1343-91_1512+790del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001322012.2:c.1343-91_1512+790del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001322013.2:c.1703-91_1872+790del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001322014.2:c.2276-58_2478+790del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001322015.2:c.1967-91_2136+790del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Lynch syndrome
Identifiers:: MONDO: MONDO:0005835; MedGen: C4552100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000108341	International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	reviewed by expert panel (Guidelines v1.9)	Pathogenic (Sep 5, 2013)	germline	research	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000108341

International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

reviewed by expert panel

(Guidelines v1.9)

Pathogenic
(Sep 5, 2013)

germline

research

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	research

Details of each submission

From International Society for Gastrointestinal Hereditary Tumours (InSiGHT), SCV000108341.3

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

Description

Large deletion

#	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: May 7, 2024

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