NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) AND Breast and/or ovarian cancer

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 18, 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:: RCV003149798.9

Allele description [Variation Report for NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)]

NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)

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.1567T>A (p.Ser523Thr)

HGVS:

NC_000007.14:g.5987198A>T
NG_008466.1:g.26909T>A
NM_000535.7:c.1567T>AMANE SELECT
NM_001322003.2:c.1162T>A
NM_001322004.2:c.1162T>A
NM_001322005.2:c.1162T>A
NM_001322006.2:c.1411T>A
NM_001322007.2:c.1249T>A
NM_001322008.2:c.1249T>A
NM_001322009.2:c.1162T>A
NM_001322010.2:c.1006T>A
NM_001322011.2:c.634T>A
NM_001322012.2:c.634T>A
NM_001322013.2:c.994T>A
NM_001322014.2:c.1567T>A
NM_001322015.2:c.1258T>A
NP_000526.2:p.Ser523Thr
NP_001308932.1:p.Ser388Thr
NP_001308933.1:p.Ser388Thr
NP_001308934.1:p.Ser388Thr
NP_001308935.1:p.Ser471Thr
NP_001308936.1:p.Ser417Thr
NP_001308937.1:p.Ser417Thr
NP_001308938.1:p.Ser388Thr
NP_001308939.1:p.Ser336Thr
NP_001308940.1:p.Ser212Thr
NP_001308941.1:p.Ser212Thr
NP_001308942.1:p.Ser332Thr
NP_001308943.1:p.Ser523Thr
NP_001308944.1:p.Ser420Thr
LRG_161t1:c.1567T>A
LRG_161:g.26909T>A
NC_000007.13:g.6026829A>T
NM_000535.5:c.1567T>A
NM_000535.6:c.1567T>A
NR_136154.1:n.1654T>A
p.S523T

Protein change:

S212T

Links:

dbSNP: rs63751132

NCBI 1000 Genomes Browser:

rs63751132

Molecular consequence:

NM_000535.7:c.1567T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322003.2:c.1162T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322004.2:c.1162T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322005.2:c.1162T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322006.2:c.1411T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322007.2:c.1249T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322008.2:c.1249T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322009.2:c.1162T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322010.2:c.1006T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322011.2:c.634T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322012.2:c.634T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322013.2:c.994T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322014.2:c.1567T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322015.2:c.1258T>A - missense variant - [Sequence Ontology: SO:0001583]
NR_136154.1:n.1654T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Breast and/or ovarian cancer
Identifiers:: MedGen: CN221562

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003837731	CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 18, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003837731

CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 18, 2021)

germline

clinical testing

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

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario, SCV003837731.1

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

#	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: Dec 28, 2024

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