NM_001048174.2(MUTYH):c.1518G>A (p.Arg506=) AND not specified

Clinical significance:Likely benign (Last evaluated: May 19, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001527000.1

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1518G>A (p.Arg506=)]

NM_001048174.2(MUTYH):c.1518G>A (p.Arg506=)

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.1518G>A (p.Arg506=)
HGVS:
  • NC_000001.11:g.45329354C>T
  • NG_008189.1:g.16117G>A
  • NM_001048171.2:c.1518G>A
  • NM_001048172.2:c.1521G>A
  • NM_001048173.2:c.1518G>A
  • NM_001048174.2:c.1518G>AMANE SELECT
  • NM_001128425.2:c.1602G>A
  • NM_001293190.2:c.1563G>A
  • NM_001293191.2:c.1551G>A
  • NM_001293192.2:c.1242G>A
  • NM_001293195.2:c.1518G>A
  • NM_001293196.2:c.1242G>A
  • NM_001350650.2:c.1173G>A
  • NM_001350651.2:c.1173G>A
  • NM_012222.3:c.1593G>A
  • NP_001041636.2:p.Arg506=
  • NP_001041637.1:p.Arg507=
  • NP_001041638.1:p.Arg506=
  • NP_001041639.1:p.Arg506=
  • NP_001121897.1:p.Arg534=
  • NP_001280119.1:p.Arg521=
  • NP_001280120.1:p.Arg517=
  • NP_001280121.1:p.Arg414=
  • NP_001280124.1:p.Arg506=
  • NP_001280125.1:p.Arg414=
  • NP_001337579.1:p.Arg391=
  • NP_001337580.1:p.Arg391=
  • NP_036354.1:p.Arg531=
  • LRG_220t1:c.1602G>A
  • LRG_220:g.16117G>A
  • NC_000001.10:g.45795026C>T
  • NM_001128425.1:c.1602G>A
  • NR_146882.2:n.1926G>A
  • NR_146883.2:n.1775G>A
Molecular consequence:
  • NR_146882.2:n.1926G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.2:n.1775G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001048171.2:c.1518G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001048172.2:c.1521G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001048173.2:c.1518G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001048174.2:c.1518G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001128425.2:c.1602G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293190.2:c.1563G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293191.2:c.1551G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293192.2:c.1242G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293195.2:c.1518G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293196.2:c.1242G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001350650.2:c.1173G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001350651.2:c.1173G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_012222.3:c.1593G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV001737803Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Likely benign
(May 19, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001737803.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: MUTYH c.1602G>A results in a synonymous change. The variant was absent in 251496 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1602G>A in individuals affected with MUTYH-Associated Polyposis and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely benign.

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

Last Updated: Jun 23, 2021

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