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NM_000535.7(PMS2):c.706-4del AND Lynch syndrome

Germline classification:
Benign (2 submissions)
Last evaluated:
Jul 10, 2015
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:
RCV000203188.2

Allele description [Variation Report for NM_000535.7(PMS2):c.706-4del]

NM_000535.7(PMS2):c.706-4del

Gene:
PMS2:PMS1 homolog 2, mismatch repair system component [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7p22.1
Genomic location:
Preferred name:
NM_000535.7(PMS2):c.706-4del
HGVS:
  • NC_000007.13:g.6037058del
  • NC_000007.14:g.5997443del
  • NG_008466.1:g.16680del
  • NM_000535.7:c.706-4delMANE SELECT
  • NM_001322003.2:c.301-4del
  • NM_001322004.2:c.301-4del
  • NM_001322005.2:c.301-4del
  • NM_001322006.2:c.706-4del
  • NM_001322007.2:c.388-4del
  • NM_001322008.2:c.388-4del
  • NM_001322009.2:c.301-4del
  • NM_001322010.2:c.301-4del
  • NM_001322011.2:c.-228-4del
  • NM_001322012.2:c.-228-4del
  • NM_001322013.2:c.133-4del
  • NM_001322014.2:c.706-4del
  • NM_001322015.2:c.397-4del
  • LRG_161t1:c.706-4del
  • LRG_161:g.16680del
  • NC_000007.13:g.6037058del
  • NC_000007.13:g.6037058delA
  • NC_000007.13:g.6037074del
  • NM_000535.5:c.706-4del
  • NM_000535.5:c.706-4delT
  • NM_000535.5:c.706-5delT
  • NM_000535.6:c.706-4delT
  • NM_000535.6:c.706-5del
  • NM_000535.6:c.706-5delT
  • NM_000535.5:c.706-4delT
Links:
Ambry Genetics: a02961; dbSNP: rs60794673
NCBI 1000 Genomes Browser:
rs60794673
Molecular consequence:
  • NM_000535.7:c.706-4del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322003.2:c.301-4del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322004.2:c.301-4del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322005.2:c.301-4del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322006.2:c.706-4del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322007.2:c.388-4del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322008.2:c.388-4del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322009.2:c.301-4del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322010.2:c.301-4del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322011.2:c.-228-4del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322012.2:c.-228-4del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322013.2:c.133-4del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322014.2:c.706-4del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322015.2:c.397-4del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Lynch syndrome
Identifiers:
MONDO: MONDO:0005835; MedGen: C4552100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000257705Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
criteria provided, single submitter

(DGD Variant Analysis Guidelines)
Benign
(Apr 17, 2015)
unknownclinical testing

DGD_Variant_Analysis_Guidelines.docx,

Citation Link,

SCV000257707Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
criteria provided, single submitter

(DGD Variant Analysis Guidelines)
Benign
(Jul 10, 2015)
unknownclinical testing

DGD_Variant_Analysis_Guidelines.docx

Citation Link

Summary from all submissions

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

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000257705.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000257707.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024