NM_000535.7(PMS2):c.2126T>C (p.Phe709Ser) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 6, 2018
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:: RCV001014542.3

Allele description [Variation Report for NM_000535.7(PMS2):c.2126T>C (p.Phe709Ser)]

NM_000535.7(PMS2):c.2126T>C (p.Phe709Ser)

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.2126T>C (p.Phe709Ser)

HGVS:

NC_000007.14:g.5982872A>G
NG_008466.1:g.31235T>C
NM_000535.7:c.2126T>CMANE SELECT
NM_001322003.2:c.1721T>C
NM_001322004.2:c.1721T>C
NM_001322005.2:c.1721T>C
NM_001322006.2:c.1970T>C
NM_001322007.2:c.1808T>C
NM_001322008.2:c.1808T>C
NM_001322009.2:c.1721T>C
NM_001322010.2:c.1565T>C
NM_001322011.2:c.1193T>C
NM_001322012.2:c.1193T>C
NM_001322013.2:c.1553T>C
NM_001322014.2:c.2126T>C
NM_001322015.2:c.1817T>C
NP_000526.2:p.Phe709Ser
NP_001308932.1:p.Phe574Ser
NP_001308933.1:p.Phe574Ser
NP_001308934.1:p.Phe574Ser
NP_001308935.1:p.Phe657Ser
NP_001308936.1:p.Phe603Ser
NP_001308937.1:p.Phe603Ser
NP_001308938.1:p.Phe574Ser
NP_001308939.1:p.Phe522Ser
NP_001308940.1:p.Phe398Ser
NP_001308941.1:p.Phe398Ser
NP_001308942.1:p.Phe518Ser
NP_001308943.1:p.Phe709Ser
NP_001308944.1:p.Phe606Ser
LRG_161t1:c.2126T>C
LRG_161:g.31235T>C
NC_000007.13:g.6022503A>G
NM_000535.5:c.2126T>C
NR_136154.1:n.2213T>C

Protein change:

F398S

Links:

dbSNP: rs1583298549

NCBI 1000 Genomes Browser:

rs1583298549

Molecular consequence:

NM_000535.7:c.2126T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322003.2:c.1721T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322004.2:c.1721T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322005.2:c.1721T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322006.2:c.1970T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322007.2:c.1808T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322008.2:c.1808T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322009.2:c.1721T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322010.2:c.1565T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322011.2:c.1193T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322012.2:c.1193T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322013.2:c.1553T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322014.2:c.2126T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322015.2:c.1817T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_136154.1:n.2213T>C - 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
SCV001175260	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 6, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001175260

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 6, 2018)

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, SCV001175260.4

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

Description

The p.F709S variant (also known as c.2126T>C), located in coding exon 12 of the PMS2 gene, results from a T to C substitution at nucleotide position 2126. The phenylalanine at codon 709 is replaced by serine, an amino acid with highly dissimilar properties. 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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