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NM_000535.7(PMS2):c.77T>C (p.Ile26Thr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 31, 2021
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:
RCV002479222.1

Allele description [Variation Report for NM_000535.7(PMS2):c.77T>C (p.Ile26Thr)]

NM_000535.7(PMS2):c.77T>C (p.Ile26Thr)

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.77T>C (p.Ile26Thr)
HGVS:
  • NC_000007.14:g.6005978A>G
  • NG_008466.1:g.8129T>C
  • NG_050738.1:g.1728A>G
  • NM_000535.7:c.77T>CMANE SELECT
  • NM_001322003.2:c.-329T>C
  • NM_001322004.2:c.-242-1920T>C
  • NM_001322005.2:c.-329T>C
  • NM_001322006.2:c.77T>C
  • NM_001322007.2:c.-139T>C
  • NM_001322008.2:c.-52-1920T>C
  • NM_001322009.2:c.-329T>C
  • NM_001322010.2:c.-242-1920T>C
  • NM_001322011.2:c.-808T>C
  • NM_001322012.2:c.-808T>C
  • NM_001322013.2:c.-329T>C
  • NM_001322014.2:c.77T>C
  • NM_001322015.2:c.-408T>C
  • NP_000526.2:p.Ile26Thr
  • NP_001308935.1:p.Ile26Thr
  • NP_001308943.1:p.Ile26Thr
  • LRG_161t1:c.77T>C
  • LRG_161:g.8129T>C
  • NC_000007.13:g.6045609A>G
  • NM_000535.5:c.77T>C
  • NM_000535.6:c.77T>C
  • NR_136154.1:n.164T>C
Protein change:
I26T
Links:
dbSNP: rs1583419301
NCBI 1000 Genomes Browser:
rs1583419301
Molecular consequence:
  • NM_001322003.2:c.-329T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322005.2:c.-329T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322007.2:c.-139T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322009.2:c.-329T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322011.2:c.-808T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322012.2:c.-808T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322013.2:c.-329T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322015.2:c.-408T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322004.2:c.-242-1920T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322008.2:c.-52-1920T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322010.2:c.-242-1920T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000535.7:c.77T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322006.2:c.77T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322014.2:c.77T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136154.1:n.164T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002774700Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Aug 31, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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, SCV002774700.1

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

Last Updated: Sep 29, 2024