NM_001128425.1(MUTYH):c.1014G>T (p.Gln338His) AND not specified

Clinical significance:Benign

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:
RCV000584255.1

Allele description [Variation Report for NM_001128425.1(MUTYH):c.1014G>T (p.Gln338His)]

NM_001128425.1(MUTYH):c.1014G>T (p.Gln338His)

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.1014G>T (p.Gln338His)
HGVS:
  • NC_000001.11:g.45331833C>A
  • NG_008189.1:g.13638G>T
  • NM_001048171.1:c.972G>T
  • NM_001048172.1:c.933G>T
  • NM_001048173.1:c.930G>T
  • NM_001048174.1:c.930G>T
  • NM_001128425.1:c.1014G>T
  • NM_001293190.1:c.975G>T
  • NM_001293191.1:c.963G>T
  • NM_001293192.1:c.654G>T
  • NM_001293195.1:c.930G>T
  • NM_001293196.1:c.654G>T
  • NM_001350650.1:c.585G>T
  • NM_001350651.1:c.585G>T
  • NM_012222.2:c.1005G>T
  • NP_001041636.1:p.Gln324His
  • NP_001041637.1:p.Gln311His
  • NP_001041638.1:p.Gln310His
  • NP_001041639.1:p.Gln310His
  • NP_001121897.1:p.Gln338His
  • NP_001280119.1:p.Gln325His
  • NP_001280120.1:p.Gln321His
  • NP_001280121.1:p.Gln218His
  • NP_001280124.1:p.Gln310His
  • NP_001280125.1:p.Gln218His
  • NP_001337579.1:p.Gln195His
  • NP_001337580.1:p.Gln195His
  • NP_036354.1:p.Gln335His
  • LRG_220t1:c.1014G>T
  • LRG_220:g.13638G>T
  • LRG_220p1:p.Gln338His
  • NC_000001.10:g.45797505C>A
  • NR_146882.1:n.1188G>T
  • NR_146883.1:n.1002G>T
Protein change:
Q195H
Links:
dbSNP: rs3219489
NCBI 1000 Genomes Browser:
rs3219489
Molecular consequence:
  • NM_001048171.1:c.972G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048172.1:c.933G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048173.1:c.930G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048174.1:c.930G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128425.1:c.1014G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293190.1:c.975G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293191.1:c.963G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293192.1:c.654G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293195.1:c.930G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293196.1:c.654G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350650.1:c.585G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350651.1:c.585G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012222.2:c.1005G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146882.1:n.1188G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.1:n.1002G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000691948Mayo Clinic Laboratories, Mayo Clinicno assertion criteria providedBenignunknownclinical testing

Summary from all submissions

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

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000691948.1

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

Last Updated: Jun 25, 2021

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