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NM_000535.7(PMS2):c.2179C>G (p.Gln727Glu) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 21, 2022
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:
RCV000164905.5

Allele description [Variation Report for NM_000535.7(PMS2):c.2179C>G (p.Gln727Glu)]

NM_000535.7(PMS2):c.2179C>G (p.Gln727Glu)

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.2179C>G (p.Gln727Glu)
HGVS:
  • NC_000007.14:g.5978692G>C
  • NG_008466.1:g.35415C>G
  • NM_000535.7:c.2179C>GMANE SELECT
  • NM_001322003.2:c.1774C>G
  • NM_001322004.2:c.1774C>G
  • NM_001322005.2:c.1774C>G
  • NM_001322006.2:c.2023C>G
  • NM_001322007.2:c.1861C>G
  • NM_001322008.2:c.1861C>G
  • NM_001322009.2:c.1774C>G
  • NM_001322010.2:c.1618C>G
  • NM_001322011.2:c.1246C>G
  • NM_001322012.2:c.1246C>G
  • NM_001322013.2:c.1606C>G
  • NM_001322014.2:c.2179C>G
  • NM_001322015.2:c.1870C>G
  • NP_000526.2:p.Gln727Glu
  • NP_001308932.1:p.Gln592Glu
  • NP_001308933.1:p.Gln592Glu
  • NP_001308934.1:p.Gln592Glu
  • NP_001308935.1:p.Gln675Glu
  • NP_001308936.1:p.Gln621Glu
  • NP_001308937.1:p.Gln621Glu
  • NP_001308938.1:p.Gln592Glu
  • NP_001308939.1:p.Gln540Glu
  • NP_001308940.1:p.Gln416Glu
  • NP_001308941.1:p.Gln416Glu
  • NP_001308942.1:p.Gln536Glu
  • NP_001308943.1:p.Gln727Glu
  • NP_001308944.1:p.Gln624Glu
  • LRG_161t1:c.2179C>G
  • LRG_161:g.35415C>G
  • NC_000007.13:g.6018323G>C
  • NM_000535.5:c.2179C>G
  • NR_136154.1:n.2266C>G
  • p.Q727E
Protein change:
Q416E
Links:
dbSNP: rs786202202
NCBI 1000 Genomes Browser:
rs786202202
Molecular consequence:
  • NM_000535.7:c.2179C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322003.2:c.1774C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322004.2:c.1774C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322005.2:c.1774C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322006.2:c.2023C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322007.2:c.1861C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322008.2:c.1861C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322009.2:c.1774C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322010.2:c.1618C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322011.2:c.1246C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322012.2:c.1246C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322013.2:c.1606C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322014.2:c.2179C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322015.2:c.1870C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136154.1:n.2266C>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000215593Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 21, 2022) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Pathogenic Variants in Cancer Predisposition Genes and Prostate Cancer Risk in Men of African Ancestry.

Matejcic M, Patel Y, Lilyquist J, Hu C, Lee KY, Gnanaolivu RD, Hart SN, Polley EC, Yadav S, Boddicker NJ, Samara R, Xia L, Sheng X, Lubmawa A, Kiddu V, Masaba B, Namuguzi D, Mutema G, Job K, Henry DM, Ingles SA, Wilkens L, et al.

JCO Precis Oncol. 2020;4:32-43. doi: 10.1200/po.19.00179. Epub 2020 Jan 31.

PubMed [citation]
PMID:
32832836
PMCID:
PMC7442213

Details of each submission

From Ambry Genetics, SCV000215593.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.Q727E variant (also known as c.2179C>G), located in coding exon 13 of the PMS2 gene, results from a C to G substitution at nucleotide position 2179. The glutamine at codon 727 is replaced by glutamic acid, an amino acid with highly similar properties. This variant was identified in a cohort of 3,579 African males diagnosed with prostate cancer who underwent multi-gene panel testing of 19 DNA repair and cancer predisposition genes (Matejcic M et al. JCO Precis Oncol, 2020 Jan;4:32-43). 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024