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NM_000535.7(PMS2):c.251-11C>G AND Endometrial carcinoma

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000503222.3

Allele description [Variation Report for NM_000535.7(PMS2):c.251-11C>G]

NM_000535.7(PMS2):c.251-11C>G

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.251-11C>G
HGVS:
  • NC_000007.14:g.6003803G>C
  • NG_008466.1:g.10304C>G
  • NM_000535.7:c.251-11C>GMANE SELECT
  • NM_001322003.2:c.-155-11C>G
  • NM_001322004.2:c.-155-11C>G
  • NM_001322005.2:c.-155-11C>G
  • NM_001322006.2:c.251-11C>G
  • NM_001322007.2:c.35+169C>G
  • NM_001322008.2:c.35+169C>G
  • NM_001322009.2:c.-155-11C>G
  • NM_001322010.2:c.-155-11C>G
  • NM_001322011.2:c.-634-11C>G
  • NM_001322012.2:c.-634-11C>G
  • NM_001322013.2:c.-155-11C>G
  • NM_001322014.2:c.251-11C>G
  • NM_001322015.2:c.-234-11C>G
  • LRG_161t1:c.251-11C>G
  • LRG_161:g.10304C>G
  • NC_000007.13:g.6043434G>C
  • NM_000535.5:c.251-11C>G
Links:
dbSNP: rs761795058
NCBI 1000 Genomes Browser:
rs761795058
Molecular consequence:
  • NM_000535.7:c.251-11C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322003.2:c.-155-11C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322004.2:c.-155-11C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322005.2:c.-155-11C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322006.2:c.251-11C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322007.2:c.35+169C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322008.2:c.35+169C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322009.2:c.-155-11C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322010.2:c.-155-11C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322011.2:c.-634-11C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322012.2:c.-634-11C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322013.2:c.-155-11C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322014.2:c.251-11C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322015.2:c.-234-11C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Endometrial carcinoma
Synonyms:
Endometrial carcinoma, somatic
Identifiers:
MONDO: MONDO:0002447; MedGen: C0476089; OMIM: 608089; Human Phenotype Ontology: HP:0012114

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000592924Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000592924.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

PMS2, INTRON 03, c.251-11C>G, p.?, (Alias:IVS3-11C>G ), Variant of Unknown Significance (ACMG 3)rnThe PMS2 c.251-11C>G variant was not identified in the literature nor was it identified in the 1000 Genomes Project, HGMD, COSMIC, MutDB, “Mismatch Repair Genes Variant Database”, “MMR Gene Unclassified Variants Database”, “InSiGHT Colon Cancer Database”, “Zhejiang Colon Cancer Database”, and ClinVar database. The c.2117_2118delA variant occurs outside of the splicing consensus sequence and in silico or computational prediction software (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) does not predict a difference in splicing in 5 of 5 different programs. (However, this information is not predictive enough to rule out pathogenicity.) In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of unknown significance.

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

Last Updated: Jun 23, 2024