NM_001048174.2(MUTYH):c.606+1G>T AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 7, 2016
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:: RCV000482610.1

Allele description [Variation Report for NM_001048174.2(MUTYH):c.606+1G>T]

NM_001048174.2(MUTYH):c.606+1G>T

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.606+1G>T

HGVS:

NC_000001.11:g.45332573C>A
NG_008189.1:g.12898G>T
NM_001048171.2:c.606+1G>T
NM_001048172.2:c.609+1G>T
NM_001048173.2:c.606+1G>T
NM_001048174.2:c.606+1G>TMANE SELECT
NM_001128425.2:c.690+1G>T
NM_001293190.2:c.651+1G>T
NM_001293191.2:c.639+1G>T
NM_001293192.2:c.330+1G>T
NM_001293195.2:c.606+1G>T
NM_001293196.2:c.330+1G>T
NM_001350650.2:c.261+1G>T
NM_001350651.2:c.261+1G>T
NM_001407069.1:c.639+1G>T
NM_001407070.1:c.606+1G>T
NM_001407071.1:c.609+1G>T
NM_001407072.1:c.606+1G>T
NM_001407073.1:c.606+1G>T
NM_001407075.1:c.522+1G>T
NM_001407077.1:c.639+1G>T
NM_001407078.1:c.609+1G>T
NM_001407079.1:c.567+1G>T
NM_001407080.1:c.564+1G>T
NM_001407081.1:c.606+1G>T
NM_001407082.1:c.261+1G>T
NM_001407083.1:c.648+1G>T
NM_001407085.1:c.648+1G>T
NM_001407086.1:c.609+1G>T
NM_001407087.1:c.627+1G>T
NM_001407088.1:c.606+1G>T
NM_001407089.1:c.606+1G>T
NM_001407091.1:c.330+1G>T
NM_012222.3:c.681+1G>T
LRG_220t1:c.690+1G>T
LRG_220:g.12898G>T
NC_000001.10:g.45798245C>A
NM_001128425.1:c.690+1G>T

Links:

dbSNP: rs878854193

NCBI 1000 Genomes Browser:

rs878854193

Molecular consequence:

NM_001048171.2:c.606+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001048172.2:c.609+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001048173.2:c.606+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001048174.2:c.606+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001128425.2:c.690+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001293190.2:c.651+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001293191.2:c.639+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001293192.2:c.330+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001293195.2:c.606+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001293196.2:c.330+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001350650.2:c.261+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001350651.2:c.261+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407069.1:c.639+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407070.1:c.606+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407071.1:c.609+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407072.1:c.606+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407073.1:c.606+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407075.1:c.522+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407077.1:c.639+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407078.1:c.609+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407079.1:c.567+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407080.1:c.564+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407081.1:c.606+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407082.1:c.261+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407083.1:c.648+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407085.1:c.648+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407086.1:c.609+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407087.1:c.627+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407088.1:c.606+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407089.1:c.606+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407091.1:c.330+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_012222.3:c.681+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000571605	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Sep 7, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000571605

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Sep 7, 2016)

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, SCV000571605.4

#	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.690+1G>T or IVS8+1G>T and consists of a G>T nucleotide substitution at the +1 position of intron 8 of the MUTYH gene. Although this variant destroys a canonical splice acceptor site and is predicted to cause abnormal splicing of exon 8, the skipping of exon 8 is predicted to be an in-frame event. While this particular variant has not, to our knowledge, been published in the literature, a nearby exonic variant, MUTYH c.690G>A, has been shown to result in skipping of exon 8 (Dallosso 2008). Importantly, Dellosso et al. (2008) reported that MUTYH c.690G>A has occurred in trans with MUTYH Tyr179Cys, one of the two common MUTYH pathogenic variants, in two individuals presenting with a phenotype consistent with MUTYH-Associated Polyposis (MAP), thus supporting that the skipping of exon 8 is deleterious. Based on the currently available information, we consider MUTYH c.690+1G>T to be a likely pathogenic variant.

#	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: Sep 29, 2024

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