NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 23, 2019
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:: RCV000760558.2

Allele description [Variation Report for NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter)]

NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7p22.1

Genomic location:

Preferred name:

NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter)

HGVS:

NC_000007.14:g.5982861G>A
NG_008466.1:g.31246C>T
NM_000535.7:c.2137C>TMANE SELECT
NM_001322003.2:c.1732C>T
NM_001322004.2:c.1732C>T
NM_001322005.2:c.1732C>T
NM_001322006.2:c.1981C>T
NM_001322007.2:c.1819C>T
NM_001322008.2:c.1819C>T
NM_001322009.2:c.1732C>T
NM_001322010.2:c.1576C>T
NM_001322011.2:c.1204C>T
NM_001322012.2:c.1204C>T
NM_001322013.2:c.1564C>T
NM_001322014.2:c.2137C>T
NM_001322015.2:c.1828C>T
NP_000526.2:p.Gln713Ter
NP_001308932.1:p.Gln578Ter
NP_001308933.1:p.Gln578Ter
NP_001308934.1:p.Gln578Ter
NP_001308935.1:p.Gln661Ter
NP_001308936.1:p.Gln607Ter
NP_001308937.1:p.Gln607Ter
NP_001308938.1:p.Gln578Ter
NP_001308939.1:p.Gln526Ter
NP_001308940.1:p.Gln402Ter
NP_001308941.1:p.Gln402Ter
NP_001308942.1:p.Gln522Ter
NP_001308943.1:p.Gln713Ter
NP_001308944.1:p.Gln610Ter
LRG_161t1:c.2137C>T
LRG_161:g.31246C>T
NC_000007.13:g.6022492G>A
NM_000535.5:c.2137C>T
NR_136154.1:n.2224C>T

Protein change:

Q402*

Links:

dbSNP: rs876659900

NCBI 1000 Genomes Browser:

rs876659900

Molecular consequence:

NR_136154.1:n.2224C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000535.7:c.2137C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001322003.2:c.1732C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001322004.2:c.1732C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001322005.2:c.1732C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001322006.2:c.1981C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001322007.2:c.1819C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001322008.2:c.1819C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001322009.2:c.1732C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001322010.2:c.1576C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001322011.2:c.1204C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001322012.2:c.1204C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001322013.2:c.1564C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001322014.2:c.2137C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001322015.2:c.1828C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000890449	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Apr 23, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000890449

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Apr 23, 2019)

germline

clinical testing

Citation Link

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

Details of each submission

From GeneDx, SCV000890449.2

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Truncating variants are considered pathogenic by a well-established clinical consortium and/or database; Has not been previously published as pathogenic or benign to our knowledge; No data available from control populations to assess the frequency of this variant

#	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

Last Updated: Sep 29, 2024

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