NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Apr 9, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000612945.3

Allele description [Variation Report for NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln)]

NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln)

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.206G>A (p.Arg69Gln)
HGVS:
  • NC_000001.11:g.45333471C>T
  • NG_008189.1:g.12000G>A
  • NM_001048171.2:c.206G>A
  • NM_001048172.2:c.209G>A
  • NM_001048173.2:c.206G>A
  • NM_001048174.2:c.206G>AMANE SELECT
  • NM_001128425.1:c.290G>A
  • NM_001128425.2:c.290G>A
  • NM_001293190.2:c.251G>A
  • NM_001293191.2:c.239G>A
  • NM_001293192.2:c.-71G>A
  • NM_001293195.2:c.206G>A
  • NM_001293196.2:c.-71G>A
  • NM_001350650.2:c.-66G>A
  • NM_001350651.2:c.-66G>A
  • NM_012222.3:c.281G>A
  • NP_001041636.2:p.Arg69Gln
  • NP_001041637.1:p.Arg70Gln
  • NP_001041638.1:p.Arg69Gln
  • NP_001041639.1:p.Arg69Gln
  • NP_001121897.1:p.Arg97Gln
  • NP_001121897.1:p.Arg97Gln
  • NP_001280119.1:p.Arg84Gln
  • NP_001280120.1:p.Arg80Gln
  • NP_001280124.1:p.Arg69Gln
  • NP_036354.1:p.Arg94Gln
  • LRG_220t1:c.290G>A
  • LRG_220:g.12000G>A
  • LRG_220p1:p.Arg97Gln
  • NC_000001.10:g.45799143C>T
  • NC_000001.10:g.45799143C>T
  • NR_146882.2:n.434G>A
  • NR_146883.2:n.357G>A
  • p.R97Q
Protein change:
R69Q
Links:
dbSNP: rs755653922
NCBI 1000 Genomes Browser:
rs755653922
Molecular consequence:
  • NM_001293192.2:c.-71G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001293196.2:c.-71G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350650.2:c.-66G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350651.2:c.-66G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001048171.2:c.206G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048172.2:c.209G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048173.2:c.206G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048174.2:c.206G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128425.1:c.290G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128425.2:c.290G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293190.2:c.251G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293191.2:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293195.2:c.206G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012222.3:c.281G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146882.2:n.434G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.2:n.357G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000713067Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Apr 9, 2020)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV000919789Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Oct 31, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman AR.

Cancer. 2015 Jan 1;121(1):25-33. doi: 10.1002/cncr.29010. Epub 2014 Sep 3.

PubMed [citation]
PMID:
25186627
See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000713067.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)

Description

proposed classification - variant undergoing re-assessment, contact laboratory

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not provided1not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000919789.1

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

Description

Variant summary: The MUTYH c.290G>A (p.Arg97Gln) variant involves the alteration of a conserved nucleotide. 2/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 3/246266 control chromosomes at a frequency of 0.0000122, which does not exceed the estimated maximal expected allele frequency of a pathogenic MUTYH variant (0.0045644). It has been reported in multiple affected individuals without strong evidence for causality (Maxwell_2014, Ricci_MUTYH_2016, Tung_2014). In addition, one other clinical diagnostic laboratory classified this variant as uncertain significance. Taken together, this variant is classified as VUS.

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

Last Updated: Oct 24, 2021

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