NM_001128425.1(MUTYH):c.859del (p.Ala287fs) AND Carcinoma of colon

Clinical significance:Pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001353713.1

Allele description [Variation Report for NM_001128425.1(MUTYH):c.859del (p.Ala287fs)]

NM_001128425.1(MUTYH):c.859del (p.Ala287fs)

Gene:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_001128425.1(MUTYH):c.859del (p.Ala287fs)
HGVS:
  • NC_000001.10:g.45797912del
  • NC_000001.11:g.45332243del
  • NG_008189.1:g.13231del
  • NM_001048171.1:c.817del
  • NM_001048172.1:c.778del
  • NM_001048173.1:c.775del
  • NM_001048174.1:c.775del
  • NM_001128425.1:c.859del
  • NM_001293190.1:c.820del
  • NM_001293191.1:c.808del
  • NM_001293192.1:c.499del
  • NM_001293195.1:c.775del
  • NM_001293196.1:c.499del
  • NM_001350650.1:c.430del
  • NM_001350651.1:c.430del
  • NM_012222.2:c.850del
  • NP_001041636.1:p.Ala273fs
  • NP_001041637.1:p.Ala260fs
  • NP_001041638.1:p.Ala259fs
  • NP_001041639.1:p.Ala259fs
  • NP_001121897.1:p.Ala287fs
  • NP_001280119.1:p.Ala274fs
  • NP_001280120.1:p.Ala270fs
  • NP_001280121.1:p.Ala167fs
  • NP_001280124.1:p.Ala259fs
  • NP_001280125.1:p.Ala167fs
  • NP_001337579.1:p.Ala144fs
  • NP_001337580.1:p.Ala144fs
  • NP_036354.1:p.Ala284fs
  • LRG_220t1:c.859del
  • LRG_220:g.13231del
  • LRG_220p1:p.Ala287fs
  • NC_000001.10:g.45797912del
  • NC_000001.10:g.45797912delC
  • NC_000001.10:g.45797915del
  • NM_001128425.1:c.859delG
  • NR_146882.1:n.1033del
  • NR_146883.1:n.847del
  • p.Ala287ProfsX32
Protein change:
A144fs
Links:
dbSNP: rs761468459
NCBI 1000 Genomes Browser:
rs761468459
Molecular consequence:
  • NM_001048171.1:c.817del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001048172.1:c.778del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001048173.1:c.775del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001048174.1:c.775del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001128425.1:c.859del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293190.1:c.820del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293191.1:c.808del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293192.1:c.499del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293195.1:c.775del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293196.1:c.499del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350650.1:c.430del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350651.1:c.430del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_012222.2:c.850del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_146882.1:n.1033del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.1:n.847del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Carcinoma of colon (CRC)
Synonyms:
Colonic carcinoma; Colorectal cancer, somatic; Colon cancer, somatic; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0002032; MedGen: C0699790

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000592699Department of Pathology and Laboratory Medicine,Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria providedPathogenicunknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Department of Pathology and Laboratory Medicine,Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000592699.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The MUTYH p.Ala287ProfsX32 variant was identified in 1 of 658 proband chromosomes (frequency: 0.002) from individuals or families with MUTYH associated polyposis, and was not identified in 116 control chromosomes from healthy individuals (Aretz 2006). The p.Ala287ProfsX32 variant was also identified in HGMD and the “InSiGHT Colon Cancer Database”. The p.Ala287ProfsX32 variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 287 and leads to a premature stop codon 32 codons downstream. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants in the MUTYH gene are an established mechanism of disease in MUTYH-associated polyposis. In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 6, 2021

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