NM_001048174.2(MUTYH):c.293G>A (p.Arg98Gln) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 11, 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:: RCV001731386.9

Allele description [Variation Report for NM_001048174.2(MUTYH):c.293G>A (p.Arg98Gln)]

NM_001048174.2(MUTYH):c.293G>A (p.Arg98Gln)

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.293G>A (p.Arg98Gln)

HGVS:

NC_000001.11:g.45333296C>T
NG_008189.1:g.12175G>A
NM_001048171.2:c.293G>A
NM_001048172.2:c.296G>A
NM_001048173.2:c.293G>A
NM_001048174.2:c.293G>AMANE SELECT
NM_001128425.2:c.377G>A
NM_001293190.2:c.338G>A
NM_001293191.2:c.326G>A
NM_001293192.2:c.17G>A
NM_001293195.2:c.293G>A
NM_001293196.2:c.17G>A
NM_001350650.2:c.22G>A
NM_001350651.2:c.22G>A
NM_012222.3:c.368G>A
NP_001041636.2:p.Arg98Gln
NP_001041637.1:p.Arg99Gln
NP_001041638.1:p.Arg98Gln
NP_001041639.1:p.Arg98Gln
NP_001121897.1:p.Arg126Gln
NP_001121897.1:p.Arg126Gln
NP_001280119.1:p.Arg113Gln
NP_001280120.1:p.Arg109Gln
NP_001280121.1:p.Arg6Gln
NP_001280124.1:p.Arg98Gln
NP_001280125.1:p.Arg6Gln
NP_001337579.1:p.Gly8Arg
NP_001337580.1:p.Gly8Arg
NP_036354.1:p.Arg123Gln
LRG_220t1:c.377G>A
LRG_220:g.12175G>A
LRG_220p1:p.Arg126Gln
NC_000001.10:g.45798968C>T
NM_001128425.1:c.377G>A
NR_146882.2:n.521G>A
NR_146883.2:n.444G>A
p.R126Q

Protein change:

G8R

Links:

dbSNP: rs587781444

NCBI 1000 Genomes Browser:

rs587781444

Molecular consequence:

NM_001048171.2:c.293G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001048172.2:c.296G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001048173.2:c.293G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001048174.2:c.293G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001128425.2:c.377G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293190.2:c.338G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293191.2:c.326G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293192.2:c.17G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293195.2:c.293G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293196.2:c.17G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350650.2:c.22G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350651.2:c.22G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_012222.3:c.368G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_146882.2:n.521G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.444G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000697686	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Sep 11, 2021)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 24470512, 27732944 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000697686

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Sep 11, 2021)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

Citations

PubMed

Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps.

Guarinos C, Juárez M, Egoavil C, Rodríguez-Soler M, Pérez-Carbonell L, Salas R, Cubiella J, Rodríguez-Moranta F, de-Castro L, Bujanda L, Serradesanferm A, Nicolás-Pérez D, Herráiz M, Fernández-Bañares F, Herreros-de-Tejada A, Aguirre E, Balmaña J, Rincón ML, Pizarro A, Polo-Ortiz F, Castillejo A, Alenda C, et al.

Clin Cancer Res. 2014 Mar 1;20(5):1158-68. doi: 10.1158/1078-0432.CCR-13-1490. Epub 2014 Jan 27.

PubMed [citation]

PMID:: 24470512

Germline mutations in Japanese familial pancreatic cancer patients.

Takai E, Yachida S, Shimizu K, Furuse J, Kubo E, Ohmoto A, Suzuki M, Hruban RH, Okusaka T, Morizane C, Furukawa T.

Oncotarget. 2016 Nov 8;7(45):74227-74235. doi: 10.18632/oncotarget.12490.

PubMed [citation]

PMID:: 27732944
PMCID:: PMC5342048

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000697686.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

Variant summary: MUTYH c.377G>A (p.Arg126Gln), also known as c.326G>A (p.Arg109Gln), results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2.8e-05 in 251354 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.377G>A has been reported in the literature in at-least one individual affected with MUTYH-Associated Polyposis (Guarinos_2014) and as a VUS in settings of multigene panel testing in one individual from a cohort of patients with familial pancreatic cancer (Takai_2016). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

#	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: Nov 3, 2024

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