NM_001048174.2(MUTYH):c.1406A>G (p.Tyr469Cys) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 24, 2022
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:: RCV002391138.2

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1406A>G (p.Tyr469Cys)]

NM_001048174.2(MUTYH):c.1406A>G (p.Tyr469Cys)

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.1406A>G (p.Tyr469Cys)

HGVS:

NC_000001.11:g.45330544T>C
NG_008189.1:g.14927A>G
NM_001048171.2:c.1406A>G
NM_001048172.2:c.1409A>G
NM_001048173.2:c.1406A>G
NM_001048174.2:c.1406A>GMANE SELECT
NM_001128425.2:c.1490A>G
NM_001293190.2:c.1451A>G
NM_001293191.2:c.1439A>G
NM_001293192.2:c.1130A>G
NM_001293195.2:c.1406A>G
NM_001293196.2:c.1130A>G
NM_001350650.2:c.1061A>G
NM_001350651.2:c.1061A>G
NM_012222.3:c.1481A>G
NP_001041636.2:p.Tyr469Cys
NP_001041637.1:p.Tyr470Cys
NP_001041638.1:p.Tyr469Cys
NP_001041639.1:p.Tyr469Cys
NP_001121897.1:p.Tyr497Cys
NP_001280119.1:p.Tyr484Cys
NP_001280120.1:p.Tyr480Cys
NP_001280121.1:p.Tyr377Cys
NP_001280124.1:p.Tyr469Cys
NP_001280125.1:p.Tyr377Cys
NP_001337579.1:p.Tyr354Cys
NP_001337580.1:p.Tyr354Cys
NP_036354.1:p.Tyr494Cys
LRG_220t1:c.1490A>G
LRG_220:g.14927A>G
NC_000001.10:g.45796216T>C
NM_001128425.1:c.1490A>G
NR_146882.2:n.1634A>G
NR_146883.2:n.1483A>G

Protein change:

Y354C

Links:

dbSNP: rs2149103640

NCBI 1000 Genomes Browser:

rs2149103640

Molecular consequence:

NM_001048171.2:c.1406A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001048172.2:c.1409A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001048173.2:c.1406A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001048174.2:c.1406A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001128425.2:c.1490A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293190.2:c.1451A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293191.2:c.1439A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293192.2:c.1130A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293195.2:c.1406A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293196.2:c.1130A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001350650.2:c.1061A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001350651.2:c.1061A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_012222.3:c.1481A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_146882.2:n.1634A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.1483A>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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Homo sapiens hypothetical protein MGC16169 (MGC16169), mRNA
Homo sapiens hypothetical protein MGC16169 (MGC16169), mRNA
gi|14916462|ref|NM_033115.1|

Nucleotide
Homo sapiens TBC domain-containing protein kinase-like, mRNA (cDNA clone MGC:872...
Homo sapiens TBC domain-containing protein kinase-like, mRNA (cDNA clone MGC:87216 IMAGE:30334680), complete cds
gi|46249777|gb|BC068496.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002698976	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 24, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002698976

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 24, 2022)

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, SCV002698976.2

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

Description

The p.Y497C variant (also known as c.1490A>G), located in coding exon 15 of the MUTYH gene, results from an A to G substitution at nucleotide position 1490. The tyrosine at codon 497 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious 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: Sep 29, 2024

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