NM_001048174.2(MUTYH):c.1208T>G (p.Leu403Arg) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 8, 2021
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:: RCV002380582.2

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1208T>G (p.Leu403Arg)]

NM_001048174.2(MUTYH):c.1208T>G (p.Leu403Arg)

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.1208T>G (p.Leu403Arg)

HGVS:

NC_000001.11:g.45331451A>C
NG_008189.1:g.14020T>G
NM_001048171.2:c.1208T>G
NM_001048172.2:c.1211T>G
NM_001048173.2:c.1208T>G
NM_001048174.2:c.1208T>GMANE SELECT
NM_001128425.2:c.1292T>G
NM_001293190.2:c.1253T>G
NM_001293191.2:c.1241T>G
NM_001293192.2:c.932T>G
NM_001293195.2:c.1208T>G
NM_001293196.2:c.932T>G
NM_001350650.2:c.863T>G
NM_001350651.2:c.863T>G
NM_001407069.1:c.1241T>G
NM_001407070.1:c.1208T>G
NM_001407071.1:c.1211T>G
NM_001407072.1:c.1208T>G
NM_001407073.1:c.1208T>G
NM_001407075.1:c.1124T>G
NM_001407077.1:c.1241T>G
NM_001407078.1:c.1211T>G
NM_001407079.1:c.1169T>G
NM_001407080.1:c.1166T>G
NM_001407081.1:c.1208T>G
NM_001407082.1:c.863T>G
NM_001407083.1:c.1250T>G
NM_001407085.1:c.1250T>G
NM_001407086.1:c.1211T>G
NM_001407087.1:c.1229T>G
NM_001407088.1:c.1208T>G
NM_001407089.1:c.1208T>G
NM_001407091.1:c.932T>G
NM_012222.3:c.1283T>G
NP_001041636.2:p.Leu403Arg
NP_001041637.1:p.Leu404Arg
NP_001041638.1:p.Leu403Arg
NP_001041639.1:p.Leu403Arg
NP_001121897.1:p.Leu431Arg
NP_001121897.1:p.Leu431Arg
NP_001280119.1:p.Leu418Arg
NP_001280120.1:p.Leu414Arg
NP_001280121.1:p.Leu311Arg
NP_001280124.1:p.Leu403Arg
NP_001280125.1:p.Leu311Arg
NP_001337579.1:p.Leu288Arg
NP_001337580.1:p.Leu288Arg
NP_001393998.1:p.Leu414Arg
NP_001393999.1:p.Leu403Arg
NP_001394000.1:p.Leu404Arg
NP_001394001.1:p.Leu403Arg
NP_001394002.1:p.Leu403Arg
NP_001394004.1:p.Leu375Arg
NP_001394006.1:p.Leu414Arg
NP_001394007.1:p.Leu404Arg
NP_001394008.1:p.Leu390Arg
NP_001394009.1:p.Leu389Arg
NP_001394010.1:p.Leu403Arg
NP_001394011.1:p.Leu288Arg
NP_001394012.1:p.Leu417Arg
NP_001394014.1:p.Leu417Arg
NP_001394015.1:p.Leu404Arg
NP_001394016.1:p.Leu410Arg
NP_001394017.1:p.Leu403Arg
NP_001394018.1:p.Leu403Arg
NP_001394020.1:p.Leu311Arg
NP_036354.1:p.Leu428Arg
LRG_220t1:c.1292T>G
LRG_220:g.14020T>G
LRG_220p1:p.Leu431Arg
NC_000001.10:g.45797123A>C
NM_001128425.1:c.1292T>G
NR_146882.2:n.1436T>G
NR_146883.2:n.1285T>G
NR_176269.1:n.1432T>G
NR_176270.1:n.1372T>G
NR_176271.1:n.1295T>G
NR_176272.1:n.1359T>G
NR_176273.1:n.1317T>G
NR_176274.1:n.1372T>G

Protein change:

L288R

Molecular consequence:

NM_001048171.2:c.1208T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001048172.2:c.1211T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001048173.2:c.1208T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001048174.2:c.1208T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001128425.2:c.1292T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293190.2:c.1253T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293191.2:c.1241T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293192.2:c.932T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293195.2:c.1208T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293196.2:c.932T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001350650.2:c.863T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001350651.2:c.863T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407069.1:c.1241T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407070.1:c.1208T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407071.1:c.1211T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407072.1:c.1208T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407073.1:c.1208T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407075.1:c.1124T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407077.1:c.1241T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407078.1:c.1211T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407079.1:c.1169T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407080.1:c.1166T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407081.1:c.1208T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407082.1:c.863T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407083.1:c.1250T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407085.1:c.1250T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407086.1:c.1211T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407087.1:c.1229T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407088.1:c.1208T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407089.1:c.1208T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407091.1:c.932T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_012222.3:c.1283T>G - missense variant - [Sequence Ontology: SO:0001583]
NR_146882.2:n.1436T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.1285T>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002689534	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 8, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002689534

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 8, 2021)

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, SCV002689534.2

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

Description

The p.L431R variant (also known as c.1292T>G), located in coding exon 13 of the MUTYH gene, results from a T to G substitution at nucleotide position 1292. The leucine at codon 431 is replaced by arginine, an amino acid with dissimilar 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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