NM_000535.7(PMS2):c.1688_1689delinsAG (p.Arg563Gln) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jan 15, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000587523.4

Allele description [Variation Report for NM_000535.7(PMS2):c.1688_1689delinsAG (p.Arg563Gln)]

NM_000535.7(PMS2):c.1688_1689delinsAG (p.Arg563Gln)

Gene:
PMS2:PMS1 homolog 2, mismatch repair system component [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
7p22.1
Genomic location:
Preferred name:
NM_000535.7(PMS2):c.1688_1689delinsAG (p.Arg563Gln)
HGVS:
  • NC_000007.14:g.5987076_5987077delinsCT
  • NG_008466.1:g.27030_27031delinsAG
  • NM_000535.7:c.1688_1689delinsAGMANE SELECT
  • NM_001322003.2:c.1283_1284delinsAG
  • NM_001322004.2:c.1283_1284delinsAG
  • NM_001322005.2:c.1283_1284delinsAG
  • NM_001322006.2:c.1532_1533delinsAG
  • NM_001322007.1:c.1370_1371delinsAG
  • NM_001322008.2:c.1370_1371delinsAG
  • NM_001322009.2:c.1283_1284delinsAG
  • NM_001322010.2:c.1127_1128delinsAG
  • NM_001322011.2:c.755_756delinsAG
  • NM_001322012.2:c.755_756delinsAG
  • NM_001322013.2:c.1115_1116delinsAG
  • NM_001322014.2:c.1688_1689delinsAG
  • NM_001322015.2:c.1379_1380delinsAG
  • NP_000526.2:p.Arg563Gln
  • NP_001308932.1:p.Arg428Gln
  • NP_001308933.1:p.Arg428Gln
  • NP_001308934.1:p.Arg428Gln
  • NP_001308935.1:p.Arg511Gln
  • NP_001308936.1:p.Arg457Gln
  • NP_001308937.1:p.Arg457Gln
  • NP_001308938.1:p.Arg428Gln
  • NP_001308939.1:p.Arg376Gln
  • NP_001308940.1:p.Arg252Gln
  • NP_001308941.1:p.Arg252Gln
  • NP_001308942.1:p.Arg372Gln
  • NP_001308943.1:p.Arg563Gln
  • NP_001308944.1:p.Arg460Gln
  • LRG_161t1:c.1688_1689delGAinsAG
  • LRG_161:g.27030_27031delinsAG
  • NC_000007.13:g.6026707_6026708delinsCT
  • NM_000535.5:c.1688_1689delGAinsAG
  • NM_000535.6:c.1688_1689delGAinsAG
  • NR_136154.1:n.1775_1776delinsAG
  • p.R563Q
Protein change:
R252Q
Links:
dbSNP: rs587780725
NCBI 1000 Genomes Browser:
rs587780725
Molecular consequence:
  • NM_000535.7:c.1688_1689delinsAG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322003.2:c.1283_1284delinsAG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322004.2:c.1283_1284delinsAG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322005.2:c.1283_1284delinsAG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322006.2:c.1532_1533delinsAG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322007.1:c.1370_1371delinsAG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322008.2:c.1370_1371delinsAG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322009.2:c.1283_1284delinsAG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322010.2:c.1127_1128delinsAG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322011.2:c.755_756delinsAG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322012.2:c.755_756delinsAG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322013.2:c.1115_1116delinsAG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322014.2:c.1688_1689delinsAG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322015.2:c.1379_1380delinsAG - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136154.1:n.1775_1776delinsAG - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000806184PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Uncertain significance
(Jan 15, 2018)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics,PreventionGenetics, SCV000806184.1

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

Last Updated: Jun 23, 2021

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