NM_001048171.1(MUTYH):c.425G>A (p.Trp142Ter) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 21, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000235993.1

Allele description

NM_001048171.1(MUTYH):c.425G>A (p.Trp142Ter)

Gene:

MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

Preferred name:

NM_001048171.1(MUTYH):c.425G>A (p.Trp142Ter)

HGVS:

NC_000001.11:g.45332955C>T
NG_008189.1:g.12516G>A
NM_001048171.1:c.425G>A
NM_001048172.1:c.386G>A
NM_001048173.1:c.383G>A
NM_001048174.1:c.383G>A
NM_001128425.1:c.467G>A
NM_001293190.1:c.428G>A
NM_001293191.1:c.416G>A
NM_001293192.1:c.107G>A
NM_001293195.1:c.383G>A
NM_001293196.1:c.107G>A
NM_001350650.1:c.38G>A
NM_001350651.1:c.38G>A
NM_012222.2:c.458G>A
NP_001041636.1:p.Trp142Ter
NP_001041637.1:p.Trp129Ter
NP_001041638.1:p.Trp128Ter
NP_001041639.1:p.Trp128Ter
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
NR_146882.1:n.641G>A
NR_146883.1:n.455G>A
p.Trp156*

Protein change:

W128*

Links:

dbSNP: rs762307622

NCBI 1000 Genomes Browser:

rs762307622

Molecular consequence:

NR_146882.1:n.641G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.1:n.455G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001048171.1:c.425G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001048172.1:c.386G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001048173.1:c.383G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001048174.1:c.383G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001128425.1:c.467G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001293190.1:c.428G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001293191.1:c.416G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001293192.1:c.107G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001293195.1:c.383G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001293196.1:c.107G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001350650.1:c.38G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001350651.1:c.38G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_012222.2:c.458G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000292870	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Apr 21, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000292870

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Apr 21, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000292870.9

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is denoted MUTYH c.467G>A at the cDNA level and p.Trp156Ter (W156X) at the protein level. The substitution creates a nonsense variant, which changes a Tryptophan to a premature stop codon (TGG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, also reported as W142X using alternate nomenclature, has been observed in at least two individuals with colorectal cancer (Guan 2015, Pilati 2017) and is considered pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 25, 2021

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