NM_000535.7(PMS2):c.1094G>C (p.Ser365Thr) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 17, 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:: RCV002442718.2

Allele description [Variation Report for NM_000535.7(PMS2):c.1094G>C (p.Ser365Thr)]

NM_000535.7(PMS2):c.1094G>C (p.Ser365Thr)

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.1094G>C (p.Ser365Thr)

HGVS:

NC_000007.14:g.5989850C>G
NG_008466.1:g.24257G>C
NM_000535.7:c.1094G>CMANE SELECT
NM_001322003.2:c.689G>C
NM_001322004.2:c.689G>C
NM_001322005.2:c.689G>C
NM_001322006.2:c.988+2123G>C
NM_001322007.2:c.776G>C
NM_001322008.2:c.776G>C
NM_001322009.2:c.689G>C
NM_001322010.2:c.583+2123G>C
NM_001322011.2:c.161G>C
NM_001322012.2:c.161G>C
NM_001322013.2:c.521G>C
NM_001322014.2:c.1094G>C
NM_001322015.2:c.785G>C
NP_000526.2:p.Ser365Thr
NP_001308932.1:p.Ser230Thr
NP_001308933.1:p.Ser230Thr
NP_001308934.1:p.Ser230Thr
NP_001308936.1:p.Ser259Thr
NP_001308937.1:p.Ser259Thr
NP_001308938.1:p.Ser230Thr
NP_001308940.1:p.Ser54Thr
NP_001308941.1:p.Ser54Thr
NP_001308942.1:p.Ser174Thr
NP_001308943.1:p.Ser365Thr
NP_001308944.1:p.Ser262Thr
LRG_161t1:c.1094G>C
LRG_161:g.24257G>C
NC_000007.13:g.6029481C>G
NM_000535.5:c.1094G>C
NR_136154.1:n.1181G>C

Protein change:

S174T

Links:

dbSNP: rs1554298690

NCBI 1000 Genomes Browser:

rs1554298690

Molecular consequence:

NM_001322006.2:c.988+2123G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001322010.2:c.583+2123G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_000535.7:c.1094G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322003.2:c.689G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322004.2:c.689G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322005.2:c.689G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322007.2:c.776G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322008.2:c.776G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322009.2:c.689G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322011.2:c.161G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322012.2:c.161G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322013.2:c.521G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322014.2:c.1094G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322015.2:c.785G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_136154.1:n.1181G>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

Recent activity

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Foot-and-mouth disease virus - type SAT 2 isolate SAT2/GHA/08/91 P2/P3 polyprote...
Foot-and-mouth disease virus - type SAT 2 isolate SAT2/GHA/08/91 P2/P3 polyprotein gene, partial cds
gi|606313034|gb|KJ144917.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002735126	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 17, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002735126

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 17, 2020)

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, SCV002735126.2

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

Description

The p.S365T variant (also known as c.1094G>C), located in coding exon 10 of the PMS2 gene, results from a G to C substitution at nucleotide position 1094. The serine at codon 365 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated 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: Sep 29, 2024

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