NM_001048174.2(MUTYH):c.262C>T (p.Arg88Trp) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Oct 23, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000212698.6

Allele description [Variation Report for NM_001048174.2(MUTYH):c.262C>T (p.Arg88Trp)]

NM_001048174.2(MUTYH):c.262C>T (p.Arg88Trp)

Gene:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_001048174.2(MUTYH):c.262C>T (p.Arg88Trp)
Other names:
p.R116W:CGG>TGG
HGVS:
  • NC_000001.11:g.45333415G>A
  • NG_008189.1:g.12056C>T
  • NM_001048171.2:c.262C>T
  • NM_001048172.2:c.265C>T
  • NM_001048173.2:c.262C>T
  • NM_001048174.2:c.262C>TMANE SELECT
  • NM_001128425.1:c.346C>T
  • NM_001128425.2:c.346C>T
  • NM_001293190.2:c.307C>T
  • NM_001293191.2:c.295C>T
  • NM_001293192.2:c.-15C>T
  • NM_001293195.2:c.262C>T
  • NM_001293196.2:c.-15C>T
  • NM_001350650.2:c.-10C>T
  • NM_001350651.2:c.-10C>T
  • NM_012222.3:c.337C>T
  • NP_001041636.2:p.Arg88Trp
  • NP_001041637.1:p.Arg89Trp
  • NP_001041638.1:p.Arg88Trp
  • NP_001041639.1:p.Arg88Trp
  • NP_001121897.1:p.Arg116Trp
  • NP_001121897.1:p.Arg116Trp
  • NP_001280119.1:p.Arg103Trp
  • NP_001280120.1:p.Arg99Trp
  • NP_001280124.1:p.Arg88Trp
  • NP_036354.1:p.Arg113Trp
  • LRG_220t1:c.346C>T
  • LRG_220:g.12056C>T
  • LRG_220p1:p.Arg116Trp
  • NC_000001.10:g.45799087G>A
  • NC_000001.10:g.45799087G>A
  • NR_146882.2:n.490C>T
  • NR_146883.2:n.413C>T
  • p.R116W
Protein change:
R103W
Links:
dbSNP: rs373766973
NCBI 1000 Genomes Browser:
rs373766973
Molecular consequence:
  • NM_001293192.2:c.-15C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001293196.2:c.-15C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350650.2:c.-10C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350651.2:c.-10C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001048171.2:c.262C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048172.2:c.265C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048173.2:c.262C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048174.2:c.262C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128425.1:c.346C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128425.2:c.346C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293190.2:c.307C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293191.2:c.295C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293195.2:c.262C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012222.3:c.337C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146882.2:n.490C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.2:n.413C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000601646Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Uncertain significance
(Jan 17, 2017)
germlineclinical testing

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

SCV000919791Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Oct 23, 2017)
germlineclinical testing

Citation Link

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, SCV000601646.1

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000919791.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: The MUTYH c.346C>T (p.Arg116Trp) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 17/277200 control chromosomes at a frequency of 0.0000613, which does not exceed the estimated maximal expected allele frequency of a pathogenic MUTYH variant (0.0045644). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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