NM_001048174.2(MUTYH):c.1183G>T (p.Glu395Ter) AND Hereditary cancer-predisposing syndrome

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 17, 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:: RCV003352871.1

Allele description

NM_001048174.2(MUTYH):c.1183G>T (p.Glu395Ter)

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.1183G>T (p.Glu395Ter)

HGVS:

NC_000001.11:g.45331476C>A
NG_008189.1:g.13995G>T
NM_001048171.2:c.1183G>T
NM_001048172.2:c.1186G>T
NM_001048173.2:c.1183G>T
NM_001048174.2:c.1183G>TMANE SELECT
NM_001128425.2:c.1267G>T
NM_001293190.2:c.1228G>T
NM_001293191.2:c.1216G>T
NM_001293192.2:c.907G>T
NM_001293195.2:c.1183G>T
NM_001293196.2:c.907G>T
NM_001350650.2:c.838G>T
NM_001350651.2:c.838G>T
NM_012222.3:c.1258G>T
NP_001041636.2:p.Glu395Ter
NP_001041637.1:p.Glu396Ter
NP_001041638.1:p.Glu395Ter
NP_001041639.1:p.Glu395Ter
NP_001121897.1:p.Glu423Ter
NP_001121897.1:p.Glu423Ter
NP_001280119.1:p.Glu410Ter
NP_001280120.1:p.Glu406Ter
NP_001280121.1:p.Glu303Ter
NP_001280124.1:p.Glu395Ter
NP_001280125.1:p.Glu303Ter
NP_001337579.1:p.Glu280Ter
NP_001337580.1:p.Glu280Ter
NP_036354.1:p.Glu420Ter
LRG_220t1:c.1267G>T
LRG_220:g.13995G>T
LRG_220p1:p.Glu423Ter
NC_000001.10:g.45797148C>A
NM_001128425.1:c.1267G>T
NR_146882.2:n.1411G>T
NR_146883.2:n.1260G>T

Protein change:

E280*

Links:

dbSNP: rs1060501321

NCBI 1000 Genomes Browser:

rs1060501321

Molecular consequence:

NR_146882.2:n.1411G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.1260G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001048171.2:c.1183G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001048172.2:c.1186G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001048173.2:c.1183G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001048174.2:c.1183G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001128425.2:c.1267G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001293190.2:c.1228G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001293191.2:c.1216G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001293192.2:c.907G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001293195.2:c.1183G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001293196.2:c.907G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001350650.2:c.838G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001350651.2:c.838G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_012222.3:c.1258G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004055752	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Pathogenic (Jul 17, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004055752

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Pathogenic
(Jul 17, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004055752.1

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

Description

The p.E423* pathogenic mutation (also known as c.1267G>T), located in coding exon 13 of the MUTYH gene, results from a G to T substitution at nucleotide position 1267. This changes the amino acid from a glutamic acid to a stop codon within coding exon 13. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Mar 5, 2024

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