NM_001048174.2(MUTYH):c.13C>G (p.Arg5Gly) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 6, 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:: RCV003168772.2

Allele description [Variation Report for NM_001048174.2(MUTYH):c.13C>G (p.Arg5Gly)]

NM_001048174.2(MUTYH):c.13C>G (p.Arg5Gly)

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.13C>G (p.Arg5Gly)

HGVS:

NC_000001.11:g.45334493G>C
NG_008189.1:g.10978C>G
NM_001048171.2:c.13C>G
NM_001048172.2:c.13C>G
NM_001048173.2:c.13C>G
NM_001048174.2:c.13C>GMANE SELECT
NM_001128425.2:c.55C>G
NM_001293190.2:c.55C>G
NM_001293191.2:c.13C>G
NM_001293192.2:c.-200C>G
NM_001293195.2:c.13C>G
NM_001293196.2:c.-200C>G
NM_001350650.2:c.-259C>G
NM_001350651.2:c.-195C>G
NM_012222.3:c.55C>G
NP_001041636.2:p.Arg5Gly
NP_001041637.1:p.Arg5Gly
NP_001041638.1:p.Arg5Gly
NP_001041639.1:p.Arg5Gly
NP_001121897.1:p.Arg19Gly
NP_001121897.1:p.Arg19Gly
NP_001280119.1:p.Arg19Gly
NP_001280120.1:p.Arg5Gly
NP_001280124.1:p.Arg5Gly
NP_036354.1:p.Arg19Gly
LRG_220t1:c.55C>G
LRG_220:g.10978C>G
LRG_220p1:p.Arg19Gly
NC_000001.10:g.45800165G>C
NM_001128425.1:c.55C>G
NR_146882.2:n.241C>G
NR_146883.2:n.164C>G

Protein change:

R19G

Links:

dbSNP: rs587780088

NCBI 1000 Genomes Browser:

rs587780088

Molecular consequence:

NM_001293192.2:c.-200C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001293196.2:c.-200C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001350650.2:c.-259C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001350651.2:c.-195C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001048171.2:c.13C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001048172.2:c.13C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001048173.2:c.13C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001048174.2:c.13C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001128425.2:c.55C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293190.2:c.55C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293191.2:c.13C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293195.2:c.13C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_012222.3:c.55C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_146882.2:n.241C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.164C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Recent activity

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Mus musculus stem-loop binding protein (Slbp), transcript variant 2, mRNA
Mus musculus stem-loop binding protein (Slbp), transcript variant 2, mRNA
gi|576067822|ref|NM_001289724.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003909398	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 6, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003909398

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 6, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps.

Guarinos C, Juárez M, Egoavil C, Rodríguez-Soler M, Pérez-Carbonell L, Salas R, Cubiella J, Rodríguez-Moranta F, de-Castro L, Bujanda L, Serradesanferm A, Nicolás-Pérez D, Herráiz M, Fernández-Bañares F, Herreros-de-Tejada A, Aguirre E, Balmaña J, Rincón ML, Pizarro A, Polo-Ortiz F, Castillejo A, Alenda C, et al.

Clin Cancer Res. 2014 Mar 1;20(5):1158-68. doi: 10.1158/1078-0432.CCR-13-1490. Epub 2014 Jan 27.

PubMed [citation]

PMID:: 24470512

Details of each submission

From Ambry Genetics, SCV003909398.2

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

Description

The p.R19G variant (also known as c.55C>G), located in coding exon 2 of the MUTYH gene, results from a C to G substitution at nucleotide position 55. The arginine at codon 19 is replaced by glycine, an amino acid with dissimilar properties. This alteration was identified in an individual with at least ten colorectal polyps (Guarinos C et al. Clin Cancer Res, 2014 Mar;20:1158-68). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: May 7, 2024

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