NM_000535.7(PMS2):c.134A>G (p.Asn45Ser) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 15, 2020
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:: RCV002379879.2

Allele description [Variation Report for NM_000535.7(PMS2):c.134A>G (p.Asn45Ser)]

NM_000535.7(PMS2):c.134A>G (p.Asn45Ser)

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.134A>G (p.Asn45Ser)

HGVS:

NC_000007.14:g.6005921T>C
NG_008466.1:g.8186A>G
NG_050738.1:g.1671T>C
NM_000535.7:c.134A>GMANE SELECT
NM_001322003.2:c.-272A>G
NM_001322004.2:c.-242-1863A>G
NM_001322005.2:c.-272A>G
NM_001322006.2:c.134A>G
NM_001322007.2:c.-82A>G
NM_001322008.2:c.-52-1863A>G
NM_001322009.2:c.-272A>G
NM_001322010.2:c.-242-1863A>G
NM_001322011.2:c.-751A>G
NM_001322012.2:c.-751A>G
NM_001322013.2:c.-272A>G
NM_001322014.2:c.134A>G
NM_001322015.2:c.-351A>G
NP_000526.2:p.Asn45Ser
NP_001308935.1:p.Asn45Ser
NP_001308943.1:p.Asn45Ser
LRG_161t1:c.134A>G
LRG_161:g.8186A>G
NC_000007.13:g.6045552T>C
NM_000535.5:c.134A>G
NR_136154.1:n.221A>G

Protein change:

N45S

Links:

dbSNP: rs1554306353

NCBI 1000 Genomes Browser:

rs1554306353

Molecular consequence:

NM_001322003.2:c.-272A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322005.2:c.-272A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322007.2:c.-82A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322009.2:c.-272A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322011.2:c.-751A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322012.2:c.-751A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322013.2:c.-272A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322015.2:c.-351A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322004.2:c.-242-1863A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322008.2:c.-52-1863A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322010.2:c.-242-1863A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000535.7:c.134A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322006.2:c.134A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322014.2:c.134A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_136154.1:n.221A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV002690306	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 15, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002690306

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 15, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Bronchospasm and rhinitis induced in allergic patients by in vitro released mediators. I. Methodology.

Lech B, Girard JP.

Allergol Immunopathol (Madr). 1987 May-Jun;15(3):121-6.

PubMed [citation]

PMID:: 2444087

Details of each submission

From Ambry Genetics, SCV002690306.2

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

Description

The p.N45S variant (also known as c.134A>G), located in coding exon 2 of the PMS2 gene, results from an A to G substitution at nucleotide position 134. The asparagine at codon 45 is replaced by serine, an amino acid with highly similar properties. Another alteration at this same codon (p.A45T/c.134A>C) has been reported in the compound heterozygous state with a second PMS2 mutation in a patient with constitutional mismatch repair deficiency (CMMRD) (Lech B et al. Allergol Immunopathol (Madr);15:121-6). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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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