NM_001048174.2(MUTYH):c.493-5A>G AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 3, 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:
RCV000180208.2

Allele description [Variation Report for NM_001048174.2(MUTYH):c.493-5A>G]

NM_001048174.2(MUTYH):c.493-5A>G

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.493-5A>G
HGVS:
  • NC_000001.11:g.45332692T>C
  • NG_008189.1:g.12779A>G
  • NM_001048171.1:c.535-5A>G
  • NM_001048171.2:c.493-5A>G
  • NM_001048172.1:c.496-5A>G
  • NM_001048173.1:c.493-5A>G
  • NM_001048174.2:c.493-5A>GMANE SELECT
  • NM_001128425.1:c.577-5A>G
  • NM_001128425.2:c.577-5A>G
  • NM_001293190.1:c.538-5A>G
  • NM_001293191.1:c.526-5A>G
  • NM_001293192.1:c.217-5A>G
  • NM_001293195.1:c.493-5A>G
  • NM_001293196.1:c.217-5A>G
  • NM_001350650.1:c.148-5A>G
  • NM_001350651.1:c.148-5A>G
  • NM_012222.2:c.568-5A>G
  • LRG_220t1:c.577-5A>G
  • LRG_220:g.12779A>G
  • NC_000001.10:g.45798364T>C
Links:
dbSNP: rs758377868
NCBI 1000 Genomes Browser:
rs758377868
Molecular consequence:
  • NM_001048171.1:c.535-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001048171.2:c.493-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001048172.1:c.496-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001048173.1:c.493-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001048174.2:c.493-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128425.1:c.577-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128425.2:c.577-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293190.1:c.538-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293191.1:c.526-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293192.1:c.217-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293195.1:c.493-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293196.1:c.217-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350650.1:c.148-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350651.1:c.148-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_012222.2:c.568-5A>G - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000232602EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jan 12, 2015)
germlineclinical testing

Citation Link,

SCV001779816GeneDxcriteria provided, single submitter
Uncertain significance
(Mar 3, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000232602.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001779816.1

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

Description

In silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing.; Reported to co-occur with a pathogenic founder MUTYH variant, phase unknown, in two individuals with severe polyposis (Landrith 2020); A published functional study suggests this variant may impact splicing (Landrith 2020); This variant is associated with the following publications: (PMID: 33011440, 32133419)

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

Last Updated: Aug 17, 2021

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