NM_001048174.2(MUTYH):c.640G>A (p.Val214Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 22, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000485459.4

Allele description [Variation Report for NM_001048174.2(MUTYH):c.640G>A (p.Val214Met)]

NM_001048174.2(MUTYH):c.640G>A (p.Val214Met)

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.640G>A (p.Val214Met)
HGVS:
  • NC_000001.11:g.45332455C>T
  • NG_008189.1:g.13016G>A
  • NM_001048171.2:c.640G>A
  • NM_001048172.2:c.643G>A
  • NM_001048173.2:c.640G>A
  • NM_001048174.2:c.640G>AMANE SELECT
  • NM_001128425.2:c.724G>A
  • NM_001293190.2:c.685G>A
  • NM_001293191.2:c.673G>A
  • NM_001293192.2:c.364G>A
  • NM_001293195.2:c.640G>A
  • NM_001293196.2:c.364G>A
  • NM_001350650.2:c.295G>A
  • NM_001350651.2:c.295G>A
  • NM_012222.3:c.715G>A
  • NP_001041636.2:p.Val214Met
  • NP_001041637.1:p.Val215Met
  • NP_001041638.1:p.Val214Met
  • NP_001041639.1:p.Val214Met
  • NP_001121897.1:p.Val242Met
  • NP_001121897.1:p.Val242Met
  • NP_001280119.1:p.Val229Met
  • NP_001280120.1:p.Val225Met
  • NP_001280121.1:p.Val122Met
  • NP_001280124.1:p.Val214Met
  • NP_001280125.1:p.Val122Met
  • NP_001337579.1:p.Val99Met
  • NP_001337580.1:p.Val99Met
  • NP_036354.1:p.Val239Met
  • LRG_220t1:c.724G>A
  • LRG_220:g.13016G>A
  • LRG_220p1:p.Val242Met
  • NC_000001.10:g.45798127C>T
  • NM_001128425.1:c.724G>A
  • NR_146882.2:n.868G>A
  • NR_146883.2:n.717G>A
Protein change:
V122M
Links:
dbSNP: rs769766446
NCBI 1000 Genomes Browser:
rs769766446
Molecular consequence:
  • NM_001048171.2:c.640G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048172.2:c.643G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048173.2:c.640G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048174.2:c.640G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128425.2:c.724G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293190.2:c.685G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293191.2:c.673G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293192.2:c.364G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293195.2:c.640G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293196.2:c.364G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350650.2:c.295G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350651.2:c.295G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012222.3:c.715G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146882.2:n.868G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.2:n.717G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005077083Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Apr 22, 2024) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Association of a New Germline Variant in the MUTYH DNA Glycosylase Gene with Colorectal Adenoma Transformation into Malignancy.

Mahasneh A, Al-Shaheri FN, BaniHani MN.

Iran Biomed J. 2019 Nov;23(6):412-22. Epub 2019 May 20.

PubMed [citation]
PMID:
31104418
PMCID:
PMC6800538

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P, Levy MA, Rooney K, Carere DA, Reilly J, Kerkhof J, Volodarsky M, Stuart A, Kadour M, Panabaker K, Schenkel LC, Lin H, Ainsworth P, Sadikovic B.

Front Genet. 2021;12:698595. doi: 10.3389/fgene.2021.698595.

PubMed [citation]
PMID:
34326862
PMCID:
PMC8314385

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005077083.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: MUTYH c.724G>A (p.Val242Met) results in a conservative amino acid change located in the HhH-GPD superfamily base excision DNA repair protein domain (PF00730) 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 8e-06 in 250450 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.724G>A has been reported in the literature in individuals affected with colorectal adenoma (examples: Mahasneh_2019, Bhai_2021). These report(s) 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. The following publications have been ascertained in the context of this evaluation (PMID: 34326862, 31104418). ClinVar contains an entry for this variant (Variation ID: 233587). Based on the evidence outlined above, the variant was classified as uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 7, 2025