U.S. flag

An official website of the United States government

NM_001048174.2(MUTYH):c.472_473delinsTG (p.Leu158Trp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 23, 2016
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:
RCV000506764.2

Allele description [Variation Report for NM_001048174.2(MUTYH):c.472_473delinsTG (p.Leu158Trp)]

NM_001048174.2(MUTYH):c.472_473delinsTG (p.Leu158Trp)

Gene:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_001048174.2(MUTYH):c.472_473delinsTG (p.Leu158Trp)
HGVS:
  • NC_000001.11:g.45332782_45332783delinsCA
  • NG_008189.1:g.12688_12689delinsTG
  • NM_001048171.2:c.472_473delinsTG
  • NM_001048172.2:c.475_476delinsTG
  • NM_001048173.2:c.472_473delinsTG
  • NM_001048174.2:c.472_473delinsTGMANE SELECT
  • NM_001128425.2:c.556_557delinsTG
  • NM_001293190.2:c.517_518delinsTG
  • NM_001293191.2:c.505_506delinsTG
  • NM_001293192.2:c.196_197delinsTG
  • NM_001293195.2:c.472_473delinsTG
  • NM_001293196.2:c.196_197delinsTG
  • NM_001350650.2:c.127_128delinsTG
  • NM_001350651.2:c.127_128delinsTG
  • NM_012222.3:c.547_548delinsTG
  • NP_001041636.2:p.Leu158Trp
  • NP_001041637.1:p.Leu159Trp
  • NP_001041638.1:p.Leu158Trp
  • NP_001041639.1:p.Leu158Trp
  • NP_001121897.1:p.Leu186Trp
  • NP_001280119.1:p.Leu173Trp
  • NP_001280120.1:p.Leu169Trp
  • NP_001280121.1:p.Leu66Trp
  • NP_001280124.1:p.Leu158Trp
  • NP_001280125.1:p.Leu66Trp
  • NP_001337579.1:p.Leu43Trp
  • NP_001337580.1:p.Leu43Trp
  • NP_036354.1:p.Leu183Trp
  • LRG_220:g.12688_12689delinsTG
  • NC_000001.10:g.45798454_45798455delinsCA
  • NM_001128425.1:c.556_557delCTinsTG
  • NR_146882.2:n.700_701delinsTG
  • NR_146883.2:n.549_550delinsTG
Protein change:
L158W
Links:
dbSNP: rs1060501337
NCBI 1000 Genomes Browser:
rs1060501337
Molecular consequence:
  • NM_001048171.2:c.472_473delinsTG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048172.2:c.475_476delinsTG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048173.2:c.472_473delinsTG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048174.2:c.472_473delinsTG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128425.2:c.556_557delinsTG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293190.2:c.517_518delinsTG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293191.2:c.505_506delinsTG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293192.2:c.196_197delinsTG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293195.2:c.472_473delinsTG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293196.2:c.196_197delinsTG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350650.2:c.127_128delinsTG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350651.2:c.127_128delinsTG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012222.3:c.547_548delinsTG - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146882.2:n.700_701delinsTG - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.2:n.549_550delinsTG - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000601653Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Dec 23, 2016) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps.

Guarinos C, Juárez M, Egoavil C, Rodríguez-Soler M, Pérez-Carbonell L, Salas R, Cubiella J, Rodríguez-Moranta F, de-Castro L, Bujanda L, Serradesanferm A, Nicolás-Pérez D, Herráiz M, Fernández-Bañares F, Herreros-de-Tejada A, Aguirre E, Balmaña J, Rincón ML, Pizarro A, Polo-Ortiz F, Castillejo A, Alenda C, et al.

Clin Cancer Res. 2014 Mar 1;20(5):1158-68. doi: 10.1158/1078-0432.CCR-13-1490. Epub 2014 Jan 27.

PubMed [citation]
PMID:
24470512

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, SCV000601653.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024