NM_001048174.2(MUTYH):c.1402G>A (p.Val468Met) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 18, 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:: RCV000129217.7

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1402G>A (p.Val468Met)]

NM_001048174.2(MUTYH):c.1402G>A (p.Val468Met)

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.1402G>A (p.Val468Met)

HGVS:

NC_000001.11:g.45330548C>T
NG_008189.1:g.14923G>A
NM_001048171.2:c.1402G>A
NM_001048172.2:c.1405G>A
NM_001048173.2:c.1402G>A
NM_001048174.2:c.1402G>AMANE SELECT
NM_001128425.2:c.1486G>A
NM_001293190.2:c.1447G>A
NM_001293191.2:c.1435G>A
NM_001293192.2:c.1126G>A
NM_001293195.2:c.1402G>A
NM_001293196.2:c.1126G>A
NM_001350650.2:c.1057G>A
NM_001350651.2:c.1057G>A
NM_012222.3:c.1477G>A
NP_001041636.1:p.Val482Met
NP_001041636.2:p.Val468Met
NP_001041637.1:p.Val469Met
NP_001041638.1:p.Val468Met
NP_001041639.1:p.Val468Met
NP_001121897.1:p.Val496Met
NP_001121897.1:p.Val496Met
NP_001280119.1:p.Val483Met
NP_001280120.1:p.Val479Met
NP_001280121.1:p.Val376Met
NP_001280124.1:p.Val468Met
NP_001280125.1:p.Val376Met
NP_001337579.1:p.Val353Met
NP_001337580.1:p.Val353Met
NP_036354.1:p.Val493Met
LRG_220t1:c.1486G>A
LRG_220:g.14923G>A
LRG_220p1:p.Val496Met
NC_000001.10:g.45796220C>T
NM_001048171.1:c.1444G>A
NM_001128425.1:c.1486G>A
NR_146882.2:n.1630G>A
NR_146883.2:n.1479G>A
p.V496M

Protein change:

V353M

Links:

dbSNP: rs587781385

NCBI 1000 Genomes Browser:

rs587781385

Molecular consequence:

NM_001048171.2:c.1402G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001048172.2:c.1405G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001048173.2:c.1402G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001048174.2:c.1402G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001128425.2:c.1486G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293190.2:c.1447G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293191.2:c.1435G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293192.2:c.1126G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293195.2:c.1402G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293196.2:c.1126G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350650.2:c.1057G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350651.2:c.1057G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_012222.3:c.1477G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_146882.2:n.1630G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.1479G>A - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000183968	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 18, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000183968

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 18, 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, SCV000183968.8

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

Description

The p.V496M variant (also known as c.1486G>A), located in coding exon 15 of the MUTYH gene, results from a G to A substitution at nucleotide position 1486. The valine at codon 496 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not 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: Sep 29, 2024

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