NM_001128425.1(MUTYH):c.1090C>T (p.Arg364Cys) AND Carcinoma of colon

Clinical significance:Uncertain significance (Last evaluated: Jul 24, 2014)

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:
RCV000144629.1

Allele description [Variation Report for NM_001128425.1(MUTYH):c.1090C>T (p.Arg364Cys)]

NM_001128425.1(MUTYH):c.1090C>T (p.Arg364Cys)

Gene:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_001128425.1(MUTYH):c.1090C>T (p.Arg364Cys)
HGVS:
  • NC_000001.11:g.45331757G>A
  • NG_008189.1:g.13714C>T
  • NM_001048171.1:c.1048C>T
  • NM_001048172.1:c.1009C>T
  • NM_001048173.1:c.1006C>T
  • NM_001048174.1:c.1006C>T
  • NM_001128425.1:c.1090C>T
  • NM_001293190.1:c.1051C>T
  • NM_001293191.1:c.1039C>T
  • NM_001293192.1:c.730C>T
  • NM_001293195.1:c.1006C>T
  • NM_001293196.1:c.730C>T
  • NM_001350650.1:c.661C>T
  • NM_001350651.1:c.661C>T
  • NM_012222.2:c.1081C>T
  • NP_001041636.1:p.Arg350Cys
  • NP_001041637.1:p.Arg337Cys
  • NP_001041638.1:p.Arg336Cys
  • NP_001041639.1:p.Arg336Cys
  • NP_001121897.1:p.Arg364Cys
  • NP_001280119.1:p.Arg351Cys
  • NP_001280120.1:p.Arg347Cys
  • NP_001280121.1:p.Arg244Cys
  • NP_001280124.1:p.Arg336Cys
  • NP_001280125.1:p.Arg244Cys
  • NP_001337579.1:p.Arg221Cys
  • NP_001337580.1:p.Arg221Cys
  • NP_036354.1:p.Arg361Cys
  • LRG_220t1:c.1090C>T
  • LRG_220:g.13714C>T
  • LRG_220p1:p.Arg364Cys
  • NC_000001.10:g.45797429G>A
  • NR_146882.1:n.1264C>T
  • NR_146883.1:n.1078C>T
Protein change:
R221C
Links:
dbSNP: rs151316420
NCBI 1000 Genomes Browser:
rs151316420
Molecular consequence:
  • NM_001048171.1:c.1048C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048172.1:c.1009C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048173.1:c.1006C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048174.1:c.1006C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128425.1:c.1090C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293190.1:c.1051C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293191.1:c.1039C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293192.1:c.730C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293195.1:c.1006C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293196.1:c.730C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350650.1:c.661C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350651.1:c.661C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012222.2:c.1081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146882.1:n.1264C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.1:n.1078C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000189956Pathway Genomicsno assertion criteria providedUncertain significance
(Jul 24, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Pathway Genomics, SCV000189956.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 25, 2021

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