NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jul 1, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000235993.2

Allele description [Variation Report for NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)]

NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)

Gene:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)
HGVS:
  • NC_000001.11:g.45332955C>T
  • NG_008189.1:g.12516G>A
  • NM_001048171.1:c.425G>A
  • NM_001048171.2:c.383G>A
  • NM_001048172.2:c.386G>A
  • NM_001048173.2:c.383G>A
  • NM_001048174.2:c.383G>AMANE SELECT
  • NM_001128425.1:c.467G>A
  • NM_001128425.2:c.467G>A
  • NM_001293190.2:c.428G>A
  • NM_001293191.2:c.416G>A
  • NM_001293192.2:c.107G>A
  • NM_001293195.2:c.383G>A
  • NM_001293196.2:c.107G>A
  • NM_001350650.2:c.38G>A
  • NM_001350651.2:c.38G>A
  • NM_012222.3:c.458G>A
  • NP_001041636.1:p.Trp142Ter
  • NP_001041636.2:p.Trp128Ter
  • NP_001041637.1:p.Trp129Ter
  • NP_001041638.1:p.Trp128Ter
  • NP_001041639.1:p.Trp128Ter
  • NP_001121897.1:p.Trp156Ter
  • NP_001121897.1:p.Trp156Ter
  • NP_001280119.1:p.Trp143Ter
  • NP_001280120.1:p.Trp139Ter
  • NP_001280121.1:p.Trp36Ter
  • NP_001280124.1:p.Trp128Ter
  • NP_001280125.1:p.Trp36Ter
  • NP_001337579.1:p.Trp13Ter
  • NP_001337580.1:p.Trp13Ter
  • NP_036354.1:p.Trp153Ter
  • LRG_220t1:c.467G>A
  • LRG_220:g.12516G>A
  • LRG_220p1:p.Trp156Ter
  • NC_000001.10:g.45798627C>T
  • NC_000001.10:g.45798627C>T
  • NR_146882.2:n.611G>A
  • NR_146883.2:n.460G>A
  • p.Trp156*
Protein change:
W128*
Links:
dbSNP: rs762307622
NCBI 1000 Genomes Browser:
rs762307622
Molecular consequence:
  • NR_146882.2:n.611G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.2:n.460G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001048171.1:c.425G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001048171.2:c.383G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001048172.2:c.386G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001048173.2:c.383G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001048174.2:c.383G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001128425.1:c.467G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001128425.2:c.467G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001293190.2:c.428G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001293191.2:c.416G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001293192.2:c.107G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001293195.2:c.383G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001293196.2:c.107G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350650.2:c.38G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350651.2:c.38G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_012222.3:c.458G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000292870GeneDxcriteria provided, single submitter
Pathogenic
(Jul 1, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000292870.9

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed in 16/19,940 (0.0802%) alleles from individuals of East Asian background in large population cohorts (Lek 2016); Observed in individuals with colorectal cancer and in a patient with a pancreatic neuroendocrine tumor (PNET)(Guan 2015, Pilati 2017, Cohen 2018, Cao 2020); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; This variant is associated with the following publications: (PMID: 25151137, 28127763, 31203172, 30151276, 29625052, 33230973, 27535533)

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

Last Updated: Oct 25, 2021

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