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NM_001048174.2(MUTYH):c.292C>T (p.Arg98Trp) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 1, 2023
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:
RCV001284665.2

Allele description [Variation Report for NM_001048174.2(MUTYH):c.292C>T (p.Arg98Trp)]

NM_001048174.2(MUTYH):c.292C>T (p.Arg98Trp)

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.292C>T (p.Arg98Trp)
HGVS:
  • NC_000001.11:g.45333297G>A
  • NG_008189.1:g.12174C>T
  • NM_001048171.2:c.292C>T
  • NM_001048172.2:c.295C>T
  • NM_001048173.2:c.292C>T
  • NM_001048174.2:c.292C>TMANE SELECT
  • NM_001128425.2:c.376C>T
  • NM_001293190.2:c.337C>T
  • NM_001293191.2:c.325C>T
  • NM_001293192.2:c.16C>T
  • NM_001293195.2:c.292C>T
  • NM_001293196.2:c.16C>T
  • NM_001350650.2:c.21C>T
  • NM_001350651.2:c.21C>T
  • NM_012222.3:c.367C>T
  • NP_001041636.2:p.Arg98Trp
  • NP_001041637.1:p.Arg99Trp
  • NP_001041638.1:p.Arg98Trp
  • NP_001041639.1:p.Arg98Trp
  • NP_001121897.1:p.Arg126Trp
  • NP_001121897.1:p.Arg126Trp
  • NP_001280119.1:p.Arg113Trp
  • NP_001280120.1:p.Arg109Trp
  • NP_001280121.1:p.Arg6Trp
  • NP_001280124.1:p.Arg98Trp
  • NP_001280125.1:p.Arg6Trp
  • NP_001337579.1:p.Gly7=
  • NP_001337580.1:p.Gly7=
  • NP_036354.1:p.Arg123Trp
  • LRG_220t1:c.376C>T
  • LRG_220:g.12174C>T
  • LRG_220p1:p.Arg126Trp
  • NC_000001.10:g.45798969G>A
  • NM_001128425.1:c.376C>T
  • NR_146882.2:n.520C>T
  • NR_146883.2:n.443C>T
  • p.R126W
Protein change:
R109W
Links:
dbSNP: rs587782041
NCBI 1000 Genomes Browser:
rs587782041
Molecular consequence:
  • NM_001048171.2:c.292C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048172.2:c.295C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048173.2:c.292C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048174.2:c.292C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128425.2:c.376C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293190.2:c.337C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293191.2:c.325C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293192.2:c.16C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293195.2:c.292C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293196.2:c.16C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012222.3:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146882.2:n.520C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.2:n.443C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001350650.2:c.21C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001350651.2:c.21C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001470572Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Feb 1, 2023) 		unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis.

Olschwang S, Blanché H, de Moncuit C, Thomas G.

Genet Test. 2007 Fall;11(3):315-20.

PubMed [citation]
PMID:
17949294

Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes.

Baert-Desurmont S, Coutant S, Charbonnier F, Macquere P, Lecoquierre F, Schwartz M, Blanluet M, Vezain M, Lanos R, Quenez O, Bou J, Bouvignies E, Fourneaux S, Manase S, Vasseur S, Mauillon J, Gerard M, Marlin R, Bougeard G, Tinat J, Frebourg T, Tournier I.

Eur J Hum Genet. 2018 Nov;26(11):1597-1602. doi: 10.1038/s41431-018-0207-2. Epub 2018 Jul 2.

PubMed [citation]
PMID:
29967336
PMCID:
PMC6189188
See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001470572.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The frequency of this variant in the general population, 0.00029 (9/30616 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. In the published literature, the variant has been reported in an individual with multiple colorectal adenomas (PMID: 17949294 (2007)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, we are unable to determine the clinical significance of this variant.

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

Last Updated: May 7, 2024