NM_000535.7(PMS2):c.81C>A (p.Cys27Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 6, 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:: RCV002427905.2

Allele description [Variation Report for NM_000535.7(PMS2):c.81C>A (p.Cys27Ter)]

NM_000535.7(PMS2):c.81C>A (p.Cys27Ter)

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.81C>A (p.Cys27Ter)

HGVS:

NC_000007.14:g.6005974G>T
NG_008466.1:g.8133C>A
NG_050738.1:g.1724G>T
NM_000535.7:c.81C>AMANE SELECT
NM_001018040.1:c.-325C>A
NM_001322003.2:c.-325C>A
NM_001322004.2:c.-242-1916C>A
NM_001322005.2:c.-325C>A
NM_001322006.2:c.81C>A
NM_001322007.2:c.-135C>A
NM_001322008.2:c.-52-1916C>A
NM_001322009.2:c.-325C>A
NM_001322010.2:c.-242-1916C>A
NM_001322011.2:c.-804C>A
NM_001322012.2:c.-804C>A
NM_001322013.2:c.-325C>A
NM_001322014.2:c.81C>A
NM_001322015.2:c.-404C>A
NM_001406866.1:c.267C>A
NM_001406868.1:c.81C>A
NM_001406869.1:c.81C>A
NM_001406870.1:c.81C>A
NM_001406871.1:c.81C>A
NM_001406872.1:c.81C>A
NM_001406873.1:c.81C>A
NM_001406874.1:c.81C>A
NM_001406875.1:c.-404C>A
NM_001406876.1:c.-135C>A
NM_001406877.1:c.-404C>A
NM_001406878.1:c.-404C>A
NM_001406880.1:c.-351C>A
NM_001406882.1:c.-404C>A
NM_001406883.1:c.-135C>A
NM_001406884.1:c.81C>A
NM_001406885.1:c.81C>A
NM_001406886.1:c.81C>A
NM_001406887.1:c.-325C>A
NM_001406888.1:c.-272C>A
NM_001406889.1:c.-272C>A
NM_001406890.1:c.-315C>A
NM_001406891.1:c.-325C>A
NM_001406892.1:c.-272C>A
NM_001406893.1:c.-325C>A
NM_001406894.1:c.-272C>A
NM_001406896.1:c.-135C>A
NM_001406897.1:c.-325C>A
NM_001406898.1:c.-325C>A
NM_001406899.1:c.-272C>A
NM_001406900.1:c.-301C>A
NM_001406901.1:c.-135C>A
NM_001406902.1:c.-135C>A
NM_001406903.1:c.-135C>A
NM_001406904.1:c.-272C>A
NM_001406905.1:c.-325C>A
NM_001406906.1:c.-325C>A
NM_001406907.1:c.-272C>A
NM_001406908.1:c.-325C>A
NM_001406909.1:c.-272C>A
NM_001406910.1:c.-325C>A
NM_001406912.1:c.81C>A
NP_000526.1:p.Cys27Ter
NP_000526.2:p.Cys27Ter
NP_001308935.1:p.Cys27Ter
NP_001308943.1:p.Cys27Ter
NP_001393795.1:p.Cys89Ter
NP_001393797.1:p.Cys27Ter
NP_001393798.1:p.Cys27Ter
NP_001393799.1:p.Cys27Ter
NP_001393800.1:p.Cys27Ter
NP_001393801.1:p.Cys27Ter
NP_001393802.1:p.Cys27Ter
NP_001393803.1:p.Cys27Ter
NP_001393813.1:p.Cys27Ter
NP_001393814.1:p.Cys27Ter
NP_001393815.1:p.Cys27Ter
NP_001393841.1:p.Cys27Ter
LRG_161t1:c.81C>A
LRG_161:g.8133C>A
LRG_161p1:p.Cys27Ter
NC_000007.13:g.6045605G>T
NM_000535.5:c.81C>A
NR_003085.2:n.163C>A
NR_136154.1:n.168C>A

Protein change:

C27*

Molecular consequence:

NM_001322003.2:c.-325C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322005.2:c.-325C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322007.2:c.-135C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322009.2:c.-325C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322011.2:c.-804C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322012.2:c.-804C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322013.2:c.-325C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322015.2:c.-404C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322004.2:c.-242-1916C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001322008.2:c.-52-1916C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001322010.2:c.-242-1916C>A - intron variant - [Sequence Ontology: SO:0001627]
NR_136154.1:n.168C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000535.7:c.81C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001322006.2:c.81C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001322014.2:c.81C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406866.1:c.267C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406868.1:c.81C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406869.1:c.81C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406870.1:c.81C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406871.1:c.81C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406872.1:c.81C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406873.1:c.81C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406874.1:c.81C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406884.1:c.81C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406885.1:c.81C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406886.1:c.81C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001406912.1:c.81C>A - 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
SCV002680117	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Mar 6, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002680117

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Mar 6, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002680117.2

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

Description

The p.C27* pathogenic mutation (also known as c.81C>A), located in coding exon 2 of the PMS2 gene, results from a C to A substitution at nucleotide position 81. This changes the amino acid from a cysteine to a stop codon within coding exon 2. 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: May 1, 2024

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