NM_001048174.2(MUTYH):c.1217C>G (p.Thr406Arg) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 3, 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:: RCV003182799.2

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1217C>G (p.Thr406Arg)]

NM_001048174.2(MUTYH):c.1217C>G (p.Thr406Arg)

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>G (p.Thr406Arg)

HGVS:

NC_000001.11:g.45331442G>C
NG_008189.1:g.14029C>G
NM_001048171.2:c.1217C>G
NM_001048172.2:c.1220C>G
NM_001048173.2:c.1217C>G
NM_001048174.2:c.1217C>GMANE SELECT
NM_001128425.2:c.1301C>G
NM_001293190.2:c.1262C>G
NM_001293191.2:c.1250C>G
NM_001293192.2:c.941C>G
NM_001293195.2:c.1217C>G
NM_001293196.2:c.941C>G
NM_001350650.2:c.872C>G
NM_001350651.2:c.872C>G
NM_001407069.1:c.1250C>G
NM_001407070.1:c.1217C>G
NM_001407071.1:c.1220C>G
NM_001407072.1:c.1217C>G
NM_001407073.1:c.1217C>G
NM_001407075.1:c.1133C>G
NM_001407077.1:c.1250C>G
NM_001407078.1:c.1220C>G
NM_001407079.1:c.1178C>G
NM_001407080.1:c.1175C>G
NM_001407081.1:c.1217C>G
NM_001407082.1:c.872C>G
NM_001407083.1:c.1259C>G
NM_001407085.1:c.1259C>G
NM_001407086.1:c.1220C>G
NM_001407087.1:c.1238C>G
NM_001407088.1:c.1217C>G
NM_001407089.1:c.1217C>G
NM_001407091.1:c.941C>G
NM_012222.3:c.1292C>G
NP_001041636.2:p.Thr406Arg
NP_001041637.1:p.Thr407Arg
NP_001041638.1:p.Thr406Arg
NP_001041639.1:p.Thr406Arg
NP_001121897.1:p.Thr434Arg
NP_001121897.1:p.Thr434Arg
NP_001280119.1:p.Thr421Arg
NP_001280120.1:p.Thr417Arg
NP_001280121.1:p.Thr314Arg
NP_001280124.1:p.Thr406Arg
NP_001280125.1:p.Thr314Arg
NP_001337579.1:p.Thr291Arg
NP_001337580.1:p.Thr291Arg
NP_001393998.1:p.Thr417Arg
NP_001393999.1:p.Thr406Arg
NP_001394000.1:p.Thr407Arg
NP_001394001.1:p.Thr406Arg
NP_001394002.1:p.Thr406Arg
NP_001394004.1:p.Thr378Arg
NP_001394006.1:p.Thr417Arg
NP_001394007.1:p.Thr407Arg
NP_001394008.1:p.Thr393Arg
NP_001394009.1:p.Thr392Arg
NP_001394010.1:p.Thr406Arg
NP_001394011.1:p.Thr291Arg
NP_001394012.1:p.Thr420Arg
NP_001394014.1:p.Thr420Arg
NP_001394015.1:p.Thr407Arg
NP_001394016.1:p.Thr413Arg
NP_001394017.1:p.Thr406Arg
NP_001394018.1:p.Thr406Arg
NP_001394020.1:p.Thr314Arg
NP_036354.1:p.Thr431Arg
LRG_220t1:c.1301C>G
LRG_220:g.14029C>G
LRG_220p1:p.Thr434Arg
NC_000001.10:g.45797114G>C
NM_001128425.1:c.1301C>G
NR_146882.2:n.1445C>G
NR_146883.2:n.1294C>G
NR_176269.1:n.1441C>G
NR_176270.1:n.1381C>G
NR_176271.1:n.1304C>G
NR_176272.1:n.1368C>G
NR_176273.1:n.1326C>G
NR_176274.1:n.1381C>G

Protein change:

T291R

Molecular consequence:

NM_001048171.2:c.1217C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001048172.2:c.1220C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001048173.2:c.1217C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001048174.2:c.1217C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001128425.2:c.1301C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293190.2:c.1262C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293191.2:c.1250C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293192.2:c.941C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293195.2:c.1217C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293196.2:c.941C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001350650.2:c.872C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001350651.2:c.872C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407069.1:c.1250C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407070.1:c.1217C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407071.1:c.1220C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407072.1:c.1217C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407073.1:c.1217C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407075.1:c.1133C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407077.1:c.1250C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407078.1:c.1220C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407079.1:c.1178C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407080.1:c.1175C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407081.1:c.1217C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407082.1:c.872C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407083.1:c.1259C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407085.1:c.1259C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407086.1:c.1220C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407087.1:c.1238C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407088.1:c.1217C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407089.1:c.1217C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407091.1:c.941C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_012222.3:c.1292C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_146882.2:n.1445C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.1294C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176269.1:n.1441C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176271.1:n.1304C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176272.1:n.1368C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176273.1:n.1326C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176274.1:n.1381C>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

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Homo sapiens FYN oncogene related to SRC, FGR, YES (FYN), transcript variant 1, ...
Homo sapiens FYN oncogene related to SRC, FGR, YES (FYN), transcript variant 1, mRNA
gi|338753368|ref|NM_002037.4|

Nucleotide
Chain o, Splicing factor 3B subunit 4
Chain o, Splicing factor 3B subunit 4
gi|1938952499|pdb|6Y53|o

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003867783	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 3, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003867783

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 3, 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, SCV003867783.2

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

Description

The p.T434R variant (also known as c.1301C>G), located in coding exon 13 of the MUTYH gene, results from a C to G substitution at nucleotide position 1301. The threonine at codon 434 is replaced by arginine, an amino acid with similar properties. This amino acid position is conserved. 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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