U.S. flag

An official website of the United States government

NM_025077.4(TOE1):c.-38G>C AND not specified

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Sep 20, 2021
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:
RCV000237070.11

Allele description [Variation Report for NM_025077.4(TOE1):c.-38G>C]

NM_025077.4(TOE1):c.-38G>C

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.-38G>C
HGVS:
  • NC_000001.11:g.45340215G>C
  • NG_008189.1:g.5256C>G
  • NG_090899.1:g.824G>C
  • NG_090900.1:g.156G>C
  • NM_001048171.2:c.-7+4C>G
  • NM_001128425.2:c.36+4C>G
  • NM_001293190.2:c.36+4C>G
  • NM_001293192.2:c.-219+4C>G
  • NM_001350650.2:c.-278+4C>G
  • NM_001350651.2:c.-214+4C>G
  • NM_001407069.1:c.36+4C>G
  • NM_001407070.1:c.-19C>G
  • NM_001407071.1:c.-19C>G
  • NM_001407072.1:c.-7+8C>G
  • NM_001407073.1:c.36+4C>G
  • NM_012222.3:c.36+4C>G
  • NM_025077.4:c.-38G>CMANE SELECT
  • LRG_220t1:c.36+4C>G
  • LRG_220:g.5256C>G
  • NC_000001.10:g.45805887G>C
  • NM_001128425.1:c.36+4C>G
Links:
dbSNP: rs774530388
NCBI 1000 Genomes Browser:
rs774530388
Molecular consequence:
  • NM_001407070.1:c.-19C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407071.1:c.-19C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_025077.4:c.-38G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001048171.2:c.-7+4C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128425.2:c.36+4C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293190.2:c.36+4C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293192.2:c.-219+4C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350650.2:c.-278+4C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350651.2:c.-214+4C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407069.1:c.36+4C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407072.1:c.-7+8C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407073.1:c.36+4C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_012222.3:c.36+4C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000601647Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Jan 25, 2017) 		germlineclinical testing

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

SCV001983537Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Sep 20, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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, SCV000601647.2

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001983537.1

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

Last Updated: May 26, 2024