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NM_000535.7(PMS2):c.706-4del AND not provided

Germline classification:
Benign (2 submissions)
Last evaluated:
Sep 23, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001689733.3

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001470605Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)
Benign
(Sep 23, 2022)
unknownclinical testing

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

SCV001911041GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Benign
(Dec 15, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001470605.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001911041.1

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

Last Updated: Sep 29, 2024