NM_001048174.2(MUTYH):c.1225C>T (p.Arg409Trp) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 2, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000590752.4

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1225C>T (p.Arg409Trp)]

NM_001048174.2(MUTYH):c.1225C>T (p.Arg409Trp)

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.1225C>T (p.Arg409Trp)
HGVS:
  • NC_000001.11:g.45331434G>A
  • NG_008189.1:g.14037C>T
  • NM_001048171.1:c.1267C>T
  • NM_001048171.2:c.1225C>T
  • NM_001048172.2:c.1228C>T
  • NM_001048173.2:c.1225C>T
  • NM_001048174.2:c.1225C>TMANE SELECT
  • NM_001128425.1:c.1309C>T
  • NM_001128425.2:c.1309C>T
  • NM_001293190.2:c.1270C>T
  • NM_001293191.2:c.1258C>T
  • NM_001293192.2:c.949C>T
  • NM_001293195.2:c.1225C>T
  • NM_001293196.2:c.949C>T
  • NM_001350650.2:c.880C>T
  • NM_001350651.2:c.880C>T
  • NM_012222.3:c.1300C>T
  • NP_001041636.1:p.Arg423Trp
  • NP_001041636.2:p.Arg409Trp
  • NP_001041637.1:p.Arg410Trp
  • NP_001041638.1:p.Arg409Trp
  • NP_001041639.1:p.Arg409Trp
  • NP_001121897.1:p.Arg437Trp
  • NP_001121897.1:p.Arg437Trp
  • NP_001280119.1:p.Arg424Trp
  • NP_001280120.1:p.Arg420Trp
  • NP_001280121.1:p.Arg317Trp
  • NP_001280124.1:p.Arg409Trp
  • NP_001280125.1:p.Arg317Trp
  • NP_001337579.1:p.Arg294Trp
  • NP_001337580.1:p.Arg294Trp
  • NP_036354.1:p.Arg434Trp
  • LRG_220t1:c.1309C>T
  • LRG_220:g.14037C>T
  • LRG_220p1:p.Arg437Trp
  • NC_000001.10:g.45797106G>A
  • NC_000001.10:g.45797106G>A
  • NR_146882.2:n.1453C>T
  • NR_146883.2:n.1302C>T
Protein change:
R294W
Links:
dbSNP: rs587778540
NCBI 1000 Genomes Browser:
rs587778540
Molecular consequence:
  • NM_001048171.1:c.1267C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048171.2:c.1225C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048172.2:c.1228C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048173.2:c.1225C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048174.2:c.1225C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128425.1:c.1309C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128425.2:c.1309C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293190.2:c.1270C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293191.2:c.1258C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293192.2:c.949C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293195.2:c.1225C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293196.2:c.949C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350650.2:c.880C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350651.2:c.880C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012222.3:c.1300C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146882.2:n.1453C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.2:n.1302C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000566268GeneDxcriteria provided, single submitter
Uncertain significance
(Aug 2, 2021)
germlineclinical testing

Citation Link,

SCV000697675Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Feb 1, 2016)
germlineclinical testing

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

LabCorp Variant Classification Summary - May 2015.docx,

Citation Link,

SCV000888307Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Uncertain significance
(Nov 2, 2017)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.

PLoS One. 2014;9(4):e94554. doi: 10.1371/journal.pone.0094554.

PubMed [citation]
PMID:
24728327
PMCID:
PMC3984285

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 GeneDx, SCV000566268.6

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

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Observed in a colorectal cancer/polyps case-control study, but it is unclear whether it was detected in cases or controls (Gordon 2019); This variant is associated with the following publications: (PMID: 23108399, 31422818, 28452373, 24728327)

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000697675.1

#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 Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000888307.1

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

Last Updated: Oct 24, 2021

Support Center