NM_001048174.2(MUTYH):c.1193G>C (p.Arg398Pro) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 13, 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:: RCV000166088.4

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1193G>C (p.Arg398Pro)]

NM_001048174.2(MUTYH):c.1193G>C (p.Arg398Pro)

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.1193G>C (p.Arg398Pro)

HGVS:

NC_000001.11:g.45331466C>G
NG_008189.1:g.14005G>C
NM_001048171.2:c.1193G>C
NM_001048172.2:c.1196G>C
NM_001048173.2:c.1193G>C
NM_001048174.2:c.1193G>CMANE SELECT
NM_001128425.2:c.1277G>C
NM_001293190.2:c.1238G>C
NM_001293191.2:c.1226G>C
NM_001293192.2:c.917G>C
NM_001293195.2:c.1193G>C
NM_001293196.2:c.917G>C
NM_001350650.2:c.848G>C
NM_001350651.2:c.848G>C
NM_012222.3:c.1268G>C
NP_001041636.2:p.Arg398Pro
NP_001041637.1:p.Arg399Pro
NP_001041638.1:p.Arg398Pro
NP_001041639.1:p.Arg398Pro
NP_001121897.1:p.Arg426Pro
NP_001121897.1:p.Arg426Pro
NP_001280119.1:p.Arg413Pro
NP_001280120.1:p.Arg409Pro
NP_001280121.1:p.Arg306Pro
NP_001280124.1:p.Arg398Pro
NP_001280125.1:p.Arg306Pro
NP_001337579.1:p.Arg283Pro
NP_001337580.1:p.Arg283Pro
NP_036354.1:p.Arg423Pro
LRG_220t1:c.1277G>C
LRG_220:g.14005G>C
LRG_220p1:p.Arg426Pro
NC_000001.10:g.45797138C>G
NM_001128425.1:c.1277G>C
NR_146882.2:n.1421G>C
NR_146883.2:n.1270G>C
p.R426P

Protein change:

R283P

Links:

dbSNP: rs748700385

NCBI 1000 Genomes Browser:

rs748700385

Molecular consequence:

NM_001048171.2:c.1193G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001048172.2:c.1196G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001048173.2:c.1193G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001048174.2:c.1193G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001128425.2:c.1277G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001293190.2:c.1238G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001293191.2:c.1226G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001293192.2:c.917G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001293195.2:c.1193G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001293196.2:c.917G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001350650.2:c.848G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001350651.2:c.848G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_012222.3:c.1268G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_146882.2:n.1421G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.1270G>C - 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

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Homo sapiens regucalcin (RGN), transcript variant 2, mRNA
Homo sapiens regucalcin (RGN), transcript variant 2, mRNA
gi|1519244680|ref|NM_152869.4|

Nucleotide
Carboxy-terminal processing protease CtpB [Kordia antarctica]
Carboxy-terminal processing protease CtpB [Kordia antarctica]
gi|1798153686|gnl|Prokka|IMCC3317_2 gb|QHI37311.1|

Protein
Chain D, Inner capsid protein VP2
Chain D, Inner capsid protein VP2
gi|1890521658|pdb|6OJ3|D

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000216853	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 13, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000216853

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 13, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000216853.7

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

Description

The p.R426P variant (also known as c.1277G>C), located in coding exon 13 of the MUTYH gene, results from a G to C substitution at nucleotide position 1277. The arginine at codon 426 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of p.R426P 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 1, 2024

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