NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs) 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:: RCV000076795.4

Allele description [Variation Report for NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs)]

NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs)

Gene:

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

Variant type:

Indel

Cytogenetic location:

7p22.1

Genomic location:

Preferred name:

NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs)

HGVS:

NC_000007.14:g.5989831_5989832delinsTAAA
NG_008466.1:g.24275_24276delinsTTTA
NM_000535.7:c.1112_1113delinsTTTAMANE SELECT
NM_001322003.2:c.707_708delinsTTTA
NM_001322004.2:c.707_708delinsTTTA
NM_001322005.2:c.707_708delinsTTTA
NM_001322006.2:c.988+2141_988+2142delinsTTTA
NM_001322007.2:c.794_795delinsTTTA
NM_001322008.2:c.794_795delinsTTTA
NM_001322009.2:c.707_708delinsTTTA
NM_001322010.2:c.583+2141_583+2142delinsTTTA
NM_001322011.2:c.179_180delinsTTTA
NM_001322012.2:c.179_180delinsTTTA
NM_001322013.2:c.539_540delinsTTTA
NM_001322014.2:c.1112_1113delinsTTTA
NM_001322015.2:c.803_804delinsTTTA
NP_000526.2:p.Asn371fs
NP_001308932.1:p.Asn236fs
NP_001308933.1:p.Asn236fs
NP_001308934.1:p.Asn236fs
NP_001308936.1:p.Asn265fs
NP_001308937.1:p.Asn265fs
NP_001308938.1:p.Asn236fs
NP_001308940.1:p.Asn60fs
NP_001308941.1:p.Asn60fs
NP_001308942.1:p.Asn180fs
NP_001308943.1:p.Asn371fs
NP_001308944.1:p.Asn268fs
LRG_161t1:c.1112_1113delATinsTTTA
LRG_161:g.24275_24276delinsTTTA
NC_000007.13:g.6029462_6029463delinsTAAA
NM_000535.5:c.1112_1113delATinsTTTA
NM_000535.7:c.1112_1113delinsTTTA
NR_136154.1:n.1199_1200delinsTTTA
p.Asn371IlefsX2
p.N371IfsX2

Protein change:

N180fs

Links:

dbSNP: rs587779326

NCBI 1000 Genomes Browser:

rs587779326

Molecular consequence:

NM_000535.7:c.1112_1113delinsTTTA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322003.2:c.707_708delinsTTTA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322004.2:c.707_708delinsTTTA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322005.2:c.707_708delinsTTTA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322007.2:c.794_795delinsTTTA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322008.2:c.794_795delinsTTTA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322009.2:c.707_708delinsTTTA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322011.2:c.179_180delinsTTTA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322012.2:c.179_180delinsTTTA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322013.2:c.539_540delinsTTTA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322014.2:c.1112_1113delinsTTTA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322015.2:c.803_804delinsTTTA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322006.2:c.988+2141_988+2142delinsTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001322010.2:c.583+2141_583+2142delinsTTTA - intron variant - [Sequence Ontology: SO:0001627]
NR_136154.1:n.1199_1200delinsTTTA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000108277	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

SCV000108277

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), SCV000108277.3

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

Description

Coding sequence variation resulting in a stop codon

#	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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Relating variation to medicine