NM_012222.2(MUTYH):c.881G>T (p.Cys294Phe) AND Carcinoma of colon

Clinical significance:Uncertain significance

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:
RCV000502805.2

Allele description [Variation Report for NM_012222.2(MUTYH):c.881G>T (p.Cys294Phe)]

NM_012222.2(MUTYH):c.881G>T (p.Cys294Phe)

Gene:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_012222.2(MUTYH):c.881G>T (p.Cys294Phe)
HGVS:
  • NC_000001.11:g.45332209C>A
  • NG_008189.1:g.13262G>T
  • NM_001048171.1:c.848G>T
  • NM_001048172.1:c.809G>T
  • NM_001048173.1:c.806G>T
  • NM_001048174.1:c.806G>T
  • NM_001128425.1:c.890G>T
  • NM_001293190.1:c.851G>T
  • NM_001293191.1:c.839G>T
  • NM_001293192.1:c.530G>T
  • NM_001293195.1:c.806G>T
  • NM_001293196.1:c.530G>T
  • NM_001350650.1:c.461G>T
  • NM_001350651.1:c.461G>T
  • NM_012222.2:c.881G>T
  • NP_001041636.1:p.Cys283Phe
  • NP_001041637.1:p.Cys270Phe
  • NP_001041638.1:p.Cys269Phe
  • NP_001041639.1:p.Cys269Phe
  • NP_001121897.1:p.Cys297Phe
  • NP_001280119.1:p.Cys284Phe
  • NP_001280120.1:p.Cys280Phe
  • NP_001280121.1:p.Cys177Phe
  • NP_001280124.1:p.Cys269Phe
  • NP_001280125.1:p.Cys177Phe
  • NP_001337579.1:p.Cys154Phe
  • NP_001337580.1:p.Cys154Phe
  • NP_036354.1:p.Cys294Phe
  • LRG_220t1:c.890G>T
  • LRG_220:g.13262G>T
  • LRG_220p1:p.Cys297Phe
  • NC_000001.10:g.45797881C>A
  • NR_146882.1:n.1064G>T
  • NR_146883.1:n.878G>T
Protein change:
C154F
Links:
dbSNP: rs879254257
NCBI 1000 Genomes Browser:
rs879254257
Molecular consequence:
  • NM_001048171.1:c.848G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048172.1:c.809G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048173.1:c.806G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048174.1:c.806G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128425.1:c.890G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293190.1:c.851G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293191.1:c.839G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293192.1:c.530G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293195.1:c.806G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293196.1:c.530G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350650.1:c.461G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350651.1:c.461G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012222.2:c.881G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146882.1:n.1064G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.1:n.878G>T - 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
SCV000592701Department of Pathology and Laboratory Medicine,Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria providedUncertain significanceunknownclinical 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), SCV000592701.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.Cys297Phe variant has not been reported in the literature nor previously identified by our laboratory. The Cys residue is conserved across mammals and computational analyses (PolyPhen2, SIFT, AlignGVGD) suggest that the Phe variant may impact the protein. However, this information is not predictive enough to assume pathogenicity. The presence of this variant in combination with a reported pathogenic variant increases the likelihood that the p.Cys297Phe variant is pathogenic. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more pathogenic role for this variant. This variant is classified as a Predicted Pathogenic.

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

Last Updated: Apr 12, 2021

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