NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 21, 2024
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:: RCV000216032.6

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)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000276836	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (May 21, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000276836

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(May 21, 2024)

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

Details of each submission

From Ambry Genetics, SCV000276836.8

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

Description

The p.Q713* pathogenic mutation (also known as c.2137C>T), located in coding exon 12 of the PMS2 gene, results from a C to T substitution at nucleotide position 2137. This changes the amino acid from a glutamine to a stop codon within coding exon 12. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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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