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NM_000535.7(PMS2):c.2006+6G>A AND Endometrial carcinoma

Germline classification:
Benign (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:
RCV001354038.10

Allele description [Variation Report for NM_000535.7(PMS2):c.2006+6G>A]

NM_000535.7(PMS2):c.2006+6G>A

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.2006+6G>A
HGVS:
  • NC_000007.14:g.5986753C>T
  • NG_008466.1:g.27354G>A
  • NM_000535.7:c.2006+6G>AMANE SELECT
  • NM_001322003.2:c.1601+6G>A
  • NM_001322004.2:c.1601+6G>A
  • NM_001322005.2:c.1601+6G>A
  • NM_001322006.2:c.1850+6G>A
  • NM_001322007.2:c.1688+6G>A
  • NM_001322008.2:c.1688+6G>A
  • NM_001322009.2:c.1601+6G>A
  • NM_001322010.2:c.1445+6G>A
  • NM_001322011.2:c.1073+6G>A
  • NM_001322012.2:c.1073+6G>A
  • NM_001322013.2:c.1433+6G>A
  • NM_001322014.2:c.2006+6G>A
  • NM_001322015.2:c.1697+6G>A
  • LRG_161t1:c.2006+6G>A
  • LRG_161:g.27354G>A
  • NC_000007.13:g.6026384C>T
  • NM_000535.5:c.2006+6G>A
  • NM_000535.6:c.2006+6G>A
Links:
dbSNP: rs111905775
NCBI 1000 Genomes Browser:
rs111905775
Molecular consequence:
  • NM_000535.7:c.2006+6G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322003.2:c.1601+6G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322004.2:c.1601+6G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322005.2:c.1601+6G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322006.2:c.1850+6G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322007.2:c.1688+6G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322008.2:c.1688+6G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322009.2:c.1601+6G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322010.2:c.1445+6G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322011.2:c.1073+6G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322012.2:c.1073+6G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322013.2:c.1433+6G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322014.2:c.2006+6G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322015.2:c.1697+6G>A - 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
SCV000592942Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Benignunknownclinical 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), SCV000592942.2

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

Description

“The PMS2, c.2006+6G>A variant was identified in 7% of 253542 control alleles in the Genome Aggregation Consortium (February 27, 2017). According to ACMG guidelines for variant classification based on allele frequency, category BA1, this variant is considered benign and has not been further reviewed (Richards 2015).”

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

Last Updated: Oct 13, 2024