NM_001048174.2(MUTYH):c.631G>A (p.Val211Ile) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 17, 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:: RCV003226228.1

Allele description [Variation Report for NM_001048174.2(MUTYH):c.631G>A (p.Val211Ile)]

NM_001048174.2(MUTYH):c.631G>A (p.Val211Ile)

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.631G>A (p.Val211Ile)

Other names:

p.Val239Ile

HGVS:

NC_000001.11:g.45332464C>T
NG_008189.1:g.13007G>A
NM_001048171.2:c.631G>A
NM_001048172.2:c.634G>A
NM_001048173.2:c.631G>A
NM_001048174.2:c.631G>AMANE SELECT
NM_001128425.2:c.715G>A
NM_001293190.2:c.676G>A
NM_001293191.2:c.664G>A
NM_001293192.2:c.355G>A
NM_001293195.2:c.631G>A
NM_001293196.2:c.355G>A
NM_001350650.2:c.286G>A
NM_001350651.2:c.286G>A
NM_012222.3:c.706G>A
NP_001041636.1:p.Val225Ile
NP_001041636.2:p.Val211Ile
NP_001041637.1:p.Val212Ile
NP_001041638.1:p.Val211Ile
NP_001041639.1:p.Val211Ile
NP_001121897.1:p.Val239Ile
NP_001121897.1:p.Val239Ile
NP_001280119.1:p.Val226Ile
NP_001280120.1:p.Val222Ile
NP_001280121.1:p.Val119Ile
NP_001280124.1:p.Val211Ile
NP_001280125.1:p.Val119Ile
NP_001337579.1:p.Val96Ile
NP_001337580.1:p.Val96Ile
NP_036354.1:p.Val236Ile
LRG_220t1:c.715G>A
LRG_220:g.13007G>A
LRG_220p1:p.Val239Ile
NC_000001.10:g.45798136C>T
NM_001048171.1:c.673G>A
NM_001128425.1:c.715G>A
NR_146882.2:n.859G>A
NR_146883.2:n.708G>A
p.V239I

Protein change:

V119I

Links:

dbSNP: rs759295912

NCBI 1000 Genomes Browser:

rs759295912

Molecular consequence:

NM_001048171.2:c.631G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001048172.2:c.634G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001048173.2:c.631G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001048174.2:c.631G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001128425.2:c.715G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293190.2:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293191.2:c.664G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293192.2:c.355G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293195.2:c.631G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001293196.2:c.355G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350650.2:c.286G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350651.2:c.286G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_012222.3:c.706G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_146882.2:n.859G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.708G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003922785	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Mar 17, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 28961279, 32068069, 33939675, 30666091 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003922785

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

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Mar 17, 2023)

germline

clinical testing

PubMed (4)
[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

The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.

Sung PL, Wen KC, Chen YJ, Chao TC, Tsai YF, Tseng LM, Qiu JT, Chao KC, Wu HH, Chuang CM, Wang PH, Huang CF.

PLoS One. 2017;12(9):e0185615. doi: 10.1371/journal.pone.0185615.

PubMed [citation]

PMID:: 28961279
PMCID:: PMC5621677

Germline Mutation in 1338 BRCA-Negative Chinese Hereditary Breast and/or Ovarian Cancer Patients: Clinical Testing with a Multigene Test Panel.

Kwong A, Shin VY, Chen J, Cheuk IWY, Ho CYS, Au CH, Chan KKL, Ngan HYS, Chan TL, Ford JM, Ma ESK.

J Mol Diagn. 2020 Apr;22(4):544-554. doi: 10.1016/j.jmoldx.2020.01.013. Epub 2020 Feb 15.

PubMed [citation]

PMID:: 32068069

See all PubMed Citations (4)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003922785.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

Variant summary: MUTYH c.715G>A (p.Val239Ile) results in a conservative amino acid change located in the HhH-GPD domain (IPR003265) of 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 250556 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.715G>A has been reported in the literature in individuals affected with breast cancer or pancreatic cancer (Sung_2017, Kwong_2020, Zhu_2021). These reports do not provide unequivocal conclusions about association of the variant with MUTYH-Associated Polyposis. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Seven ClinVar submitters (evaluation after 2014) cite this 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: Jun 29, 2025

ClinVar

Relating variation to medicine