NM_025077.4(TOE1):c.52+77G>A AND not provided

Clinical significance:Uncertain significance

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000504244.2

Allele description [Variation Report for NM_025077.4(TOE1):c.52+77G>A]

NM_025077.4(TOE1):c.52+77G>A

Genes:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
TOE1:target of EGR1, exonuclease [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_025077.4(TOE1):c.52+77G>A
HGVS:
  • NC_000001.11:g.45340381G>A
  • NG_008189.1:g.5090C>T
  • NM_001048171.2:c.-169C>T
  • NM_001128425.2:c.-127C>T
  • NM_001293190.2:c.-127C>T
  • NM_001293192.2:c.-381C>T
  • NM_001350650.2:c.-440C>T
  • NM_001350651.2:c.-376C>T
  • NM_012222.3:c.-127C>T
  • NM_025077.4:c.52+77G>AMANE SELECT
  • LRG_220t1:c.-127C>T
  • LRG_220:g.5090C>T
  • NC_000001.10:g.45806053G>A
  • NM_001048171.1:c.-127C>T
  • NM_001128425.1:c.-127C>T
  • NR_146882.2:n.60C>T
Links:
dbSNP: rs3219466
NCBI 1000 Genomes Browser:
rs3219466
Molecular consequence:
  • NM_001048171.2:c.-169C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001128425.2:c.-127C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001293190.2:c.-127C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001293192.2:c.-381C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350650.2:c.-440C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350651.2:c.-376C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_012222.3:c.-127C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_025077.4:c.52+77G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NR_146882.2:n.60C>T - 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
SCV000592670Department of Pathology and Laboratory Medicine,Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria providedUncertain significanceunknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes0not 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), SCV000592670.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided0not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided0not providednot providednot provided

Last Updated: Dec 4, 2021

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