NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 30, 2023
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:: RCV003223616.2

Allele description [Variation Report for NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter)]

NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter)

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.715C>T (p.Gln239Ter)

HGVS:

NC_000001.11:g.45332300G>A
NG_008189.1:g.13171C>T
NM_001048171.2:c.715C>T
NM_001048172.2:c.718C>T
NM_001048173.2:c.715C>T
NM_001048174.2:c.715C>TMANE SELECT
NM_001128425.2:c.799C>T
NM_001293190.2:c.760C>T
NM_001293191.2:c.748C>T
NM_001293192.2:c.439C>T
NM_001293195.2:c.715C>T
NM_001293196.2:c.439C>T
NM_001350650.2:c.370C>T
NM_001350651.2:c.370C>T
NM_012222.3:c.790C>T
NP_001041636.2:p.Gln239Ter
NP_001041637.1:p.Gln240Ter
NP_001041638.1:p.Gln239Ter
NP_001041639.1:p.Gln239Ter
NP_001121897.1:p.Gln267Ter
NP_001121897.1:p.Gln267Ter
NP_001280119.1:p.Gln254Ter
NP_001280120.1:p.Gln250Ter
NP_001280121.1:p.Gln147Ter
NP_001280124.1:p.Gln239Ter
NP_001280125.1:p.Gln147Ter
NP_001337579.1:p.Gln124Ter
NP_001337580.1:p.Gln124Ter
NP_036354.1:p.Gln264Ter
LRG_220t1:c.799C>T
LRG_220:g.13171C>T
LRG_220p1:p.Gln267Ter
NC_000001.10:g.45797972G>A
NM_001128425.1:c.799C>T
NR_146882.2:n.943C>T
NR_146883.2:n.792C>T
p.Q267*

Protein change:

Q124*

Links:

dbSNP: rs786203115

NCBI 1000 Genomes Browser:

rs786203115

Molecular consequence:

NR_146882.2:n.943C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.792C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001048171.2:c.715C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001048172.2:c.718C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001048173.2:c.715C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001048174.2:c.715C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001128425.2:c.799C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001293190.2:c.760C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001293191.2:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001293192.2:c.439C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001293195.2:c.715C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001293196.2:c.439C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001350650.2:c.370C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001350651.2:c.370C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_012222.3:c.790C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003919401	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Mar 30, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003919401

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Mar 30, 2023)

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, SCV003919401.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not 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 with a pathogenic MUTYH variant, phase unknown, in patients with a personal history consistent with MUTYH-associated polyposis (Zhang et al., 2015; Li et al., 2020); Also known as MUTYH c.757C>T (p.Gln253Ter); This variant is associated with the following publications: (PMID: 26986879, 25892863, 25525159, 17703316, 25856671, 26963279, 29093764, 31744909, 23605219, 25931827, 35273153, 20663686, 32980694, 34897210, 32973888, 32521533)

#	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: May 16, 2025

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