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NM_001048174.2(MUTYH):c.472_473delinsTG (p.Leu158Trp) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 20, 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:
RCV002348303.3

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)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002649990Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 20, 2023) 		germlineclinical testing

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

Citation Link

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

Details of each submission

From Ambry Genetics, SCV002649990.3

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

Description

The c.556_557delCTinsTG variant (also known as p.L186W), located in coding exon 7 of the MUTYH gene, results from an in-frame deletion of CT and insertion of TG at nucleotide positions 556 to 557. This results in the substitution of the leucine residue for a tryptophan residue at codon 186, an amino acid with similar properties. This alteration has been observed in conjunction with a pathogenic variant in MUTYH, p.G396D, in a patient affected with adenomatous polyposis (Guarinos C et al. Clin Cancer Res, 2014 Mar;20:1158-68). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024