NM_000535.7(PMS2):c.335G>A (p.Ser112Asn) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 25, 2021
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:: RCV002321063.2

Allele description [Variation Report for NM_000535.7(PMS2):c.335G>A (p.Ser112Asn)]

NM_000535.7(PMS2):c.335G>A (p.Ser112Asn)

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.335G>A (p.Ser112Asn)

HGVS:

NC_000007.14:g.6003708C>T
NG_008466.1:g.10399G>A
NM_000535.7:c.335G>AMANE SELECT
NM_001018040.1:c.-71G>A
NM_001322003.2:c.-71G>A
NM_001322004.2:c.-71G>A
NM_001322005.2:c.-71G>A
NM_001322006.2:c.335G>A
NM_001322007.2:c.35+264G>A
NM_001322008.2:c.35+264G>A
NM_001322009.2:c.-71G>A
NM_001322010.2:c.-71G>A
NM_001322011.2:c.-550G>A
NM_001322012.2:c.-550G>A
NM_001322013.2:c.-71G>A
NM_001322014.2:c.335G>A
NM_001322015.2:c.-150G>A
NM_001406866.1:c.521G>A
NM_001406868.1:c.359G>A
NM_001406869.1:c.335G>A
NM_001406870.1:c.335G>A
NM_001406871.1:c.335G>A
NM_001406872.1:c.335G>A
NM_001406873.1:c.335G>A
NM_001406874.1:c.335G>A
NM_001406875.1:c.-150G>A
NM_001406877.1:c.-150G>A
NM_001406878.1:c.-150G>A
NM_001406879.1:c.-150G>A
NM_001406882.1:c.-150G>A
NM_001406884.1:c.335G>A
NM_001406886.1:c.335G>A
NM_001406887.1:c.-71G>A
NM_001406890.1:c.-61G>A
NM_001406891.1:c.-71G>A
NM_001406893.1:c.-71G>A
NM_001406897.1:c.-71G>A
NM_001406898.1:c.-71G>A
NM_001406905.1:c.-71G>A
NM_001406906.1:c.-71G>A
NM_001406908.1:c.-71G>A
NM_001406910.1:c.-71G>A
NM_001406911.1:c.-71G>A
NM_001406912.1:c.335G>A
NP_000526.1:p.Ser112Asn
NP_000526.2:p.Ser112Asn
NP_001308935.1:p.Ser112Asn
NP_001308943.1:p.Ser112Asn
NP_001393795.1:p.Ser174Asn
NP_001393797.1:p.Ser120Asn
NP_001393798.1:p.Ser112Asn
NP_001393799.1:p.Ser112Asn
NP_001393800.1:p.Ser112Asn
NP_001393801.1:p.Ser112Asn
NP_001393802.1:p.Ser112Asn
NP_001393803.1:p.Ser112Asn
NP_001393813.1:p.Ser112Asn
NP_001393815.1:p.Ser112Asn
NP_001393841.1:p.Ser112Asn
LRG_161t1:c.335G>A
LRG_161:g.10399G>A
LRG_161p1:p.Ser112Asn
NC_000007.13:g.6043339C>T
NM_000535.5:c.335G>A
NR_003085.2:n.417G>A
NR_136154.1:n.422G>A

Protein change:

S112N

Molecular consequence:

NM_001322003.2:c.-71G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322004.2:c.-71G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322005.2:c.-71G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322009.2:c.-71G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322010.2:c.-71G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322011.2:c.-550G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322012.2:c.-550G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322013.2:c.-71G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322015.2:c.-150G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001322007.2:c.35+264G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001322008.2:c.35+264G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000535.7:c.335G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322006.2:c.335G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322014.2:c.335G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406866.1:c.521G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406868.1:c.359G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406869.1:c.335G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406870.1:c.335G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406871.1:c.335G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406872.1:c.335G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406873.1:c.335G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406874.1:c.335G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406884.1:c.335G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406886.1:c.335G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406912.1:c.335G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_136154.1:n.422G>A - 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

Recent activity

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Chain A, Glycyl-tRNA synthetase
Chain A, Glycyl-tRNA synthetase
gi|150261553|pdb|2Q5I|A

Protein
Homo sapiens H1.0 linker histone (H1-0), mRNA
Homo sapiens H1.0 linker histone (H1-0), mRNA
gi|85838503|ref|NM_005318.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002606286	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 25, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002606286

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 25, 2021)

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, SCV002606286.2

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

Description

The p.S112N variant (also known as c.335G>A), located in coding exon 4 of the PMS2 gene, results from a G to A substitution at nucleotide position 335. The serine at codon 112 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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: Sep 29, 2024

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