NM_001048174.2(MUTYH):c.1217C>A (p.Thr406Lys) 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:: RCV001010861.4

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1217C>A (p.Thr406Lys)]

NM_001048174.2(MUTYH):c.1217C>A (p.Thr406Lys)

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.1217C>A (p.Thr406Lys)

HGVS:

NC_000001.11:g.45331442G>T
NG_008189.1:g.14029C>A
NM_001048171.2:c.1217C>A
NM_001048172.2:c.1220C>A
NM_001048173.2:c.1217C>A
NM_001048174.2:c.1217C>AMANE SELECT
NM_001128425.2:c.1301C>A
NM_001293190.2:c.1262C>A
NM_001293191.2:c.1250C>A
NM_001293192.2:c.941C>A
NM_001293195.2:c.1217C>A
NM_001293196.2:c.941C>A
NM_001350650.2:c.872C>A
NM_001350651.2:c.872C>A
NM_012222.3:c.1292C>A
NP_001041636.2:p.Thr406Lys
NP_001041637.1:p.Thr407Lys
NP_001041638.1:p.Thr406Lys
NP_001041639.1:p.Thr406Lys
NP_001121897.1:p.Thr434Lys
NP_001280119.1:p.Thr421Lys
NP_001280120.1:p.Thr417Lys
NP_001280121.1:p.Thr314Lys
NP_001280124.1:p.Thr406Lys
NP_001280125.1:p.Thr314Lys
NP_001337579.1:p.Thr291Lys
NP_001337580.1:p.Thr291Lys
NP_036354.1:p.Thr431Lys
LRG_220t1:c.1301C>A
LRG_220:g.14029C>A
NC_000001.10:g.45797114G>T
NM_001128425.1:c.1301C>A
NR_146882.2:n.1445C>A
NR_146883.2:n.1294C>A

Protein change:

T291K

Links:

dbSNP: rs587780084

NCBI 1000 Genomes Browser:

rs587780084

Molecular consequence:

NM_001048171.2:c.1217C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001048172.2:c.1220C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001048173.2:c.1217C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001048174.2:c.1217C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001128425.2:c.1301C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293190.2:c.1262C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293191.2:c.1250C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293192.2:c.941C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293195.2:c.1217C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293196.2:c.941C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350650.2:c.872C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350651.2:c.872C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_012222.3:c.1292C>A - missense variant - [Sequence Ontology: SO:0001583]
NR_146882.2:n.1445C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.1294C>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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NADH dehydrogenase subunit 3 (mitochondrion) [Sacalia quadriocellata]
NADH dehydrogenase subunit 3 (mitochondrion) [Sacalia quadriocellata]
gi|219524182|gnl|NCBI_MITO|ND3_2359 |YP_002456328.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001171115	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 6, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001171115

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 6, 2023)

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, SCV001171115.5

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

Description

The p.T434K variant (also known as c.1301C>A), located in coding exon 13 of the MUTYH gene, results from a C to A substitution at nucleotide position 1301. The threonine at codon 434 is replaced by lysine, an amino acid with similar 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 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 1, 2024

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