NM_012222.2(MUTYH):c.129C>T (p.Asn43=) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Benign(1);Likely benign(1);Uncertain significance(1) (Last evaluated: Apr 15, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000759159.9

Allele description [Variation Report for NM_012222.2(MUTYH):c.129C>T (p.Asn43=)]

NM_012222.2(MUTYH):c.129C>T (p.Asn43=)

Gene:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_012222.2(MUTYH):c.129C>T (p.Asn43=)
HGVS:
  • NC_000001.11:g.45334419G>A
  • NG_008189.1:g.11052C>T
  • NM_001048171.1:c.129C>T
  • NM_001048172.1:c.87C>T
  • NM_001048173.1:c.87C>T
  • NM_001048174.1:c.87C>T
  • NM_001128425.1:c.129C>T
  • NM_001293190.1:c.129C>T
  • NM_001293191.1:c.87C>T
  • NM_001293192.1:c.-126C>T
  • NM_001293195.1:c.87C>T
  • NM_001293196.1:c.-126C>T
  • NM_001350650.1:c.-185C>T
  • NM_001350651.1:c.-121C>T
  • NM_012222.2:c.129C>T
  • NP_001041636.1:p.Asn43=
  • NP_001041637.1:p.Asn29=
  • NP_001041638.1:p.Asn29=
  • NP_001041639.1:p.Asn29=
  • NP_001121897.1:p.Asn43=
  • NP_001280119.1:p.Asn43=
  • NP_001280120.1:p.Asn29=
  • NP_001280124.1:p.Asn29=
  • NP_036354.1:p.Asn43=
  • LRG_220t1:c.129C>T
  • LRG_220:g.11052C>T
  • LRG_220p1:p.Asn43=
  • NC_000001.10:g.45800091G>A
  • NR_146882.1:n.345C>T
  • NR_146883.1:n.233C>T
  • p.N43N
Links:
dbSNP: rs141679570
NCBI 1000 Genomes Browser:
rs141679570
Molecular consequence:
  • NM_001293192.1:c.-126C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001293196.1:c.-126C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350650.1:c.-185C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350651.1:c.-121C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_146882.1:n.345C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.1:n.233C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001048171.1:c.129C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001048172.1:c.87C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001048173.1:c.87C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001048174.1:c.87C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001128425.1:c.129C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293190.1:c.129C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293191.1:c.87C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293195.1:c.87C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_012222.2:c.129C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000592676Department of Pathology and Laboratory Medicine,Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria providedUncertain significanceunknownclinical testing

SCV000888305Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Likely benign
(Apr 15, 2019)
germlineclinical testing

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

SCV001147274CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Apr 1, 2017)
germlineclinical testing

Citation Link,

SCV001882923GeneDxcriteria provided, single submitter
Benign
(Mar 3, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes0not providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing
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 Department of Pathology and Laboratory Medicine,Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000592676.2

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000888305.2

#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 CeGaT Praxis fuer Humangenetik Tuebingen, SCV001147274.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001882923.1

#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: Oct 6, 2021

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