NM_001128425.1(MUTYH):c.1548G>C (p.Pro516=) AND not specified

Clinical significance:Likely benign (Last evaluated: Aug 29, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000587776.2

Allele description [Variation Report for NM_001128425.1(MUTYH):c.1548G>C (p.Pro516=)]

NM_001128425.1(MUTYH):c.1548G>C (p.Pro516=)

Gene:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_001128425.1(MUTYH):c.1548G>C (p.Pro516=)
HGVS:
  • NC_000001.11:g.45329408C>G
  • NG_008189.1:g.16063G>C
  • NM_001048171.1:c.1506G>C
  • NM_001048172.1:c.1467G>C
  • NM_001048173.1:c.1464G>C
  • NM_001048174.1:c.1464G>C
  • NM_001128425.1:c.1548G>C
  • NM_001293190.1:c.1509G>C
  • NM_001293191.1:c.1497G>C
  • NM_001293192.1:c.1188G>C
  • NM_001293195.1:c.1464G>C
  • NM_001293196.1:c.1188G>C
  • NM_001350650.1:c.1119G>C
  • NM_001350651.1:c.1119G>C
  • NM_012222.2:c.1539G>C
  • NP_001041636.1:p.Pro502=
  • NP_001041637.1:p.Pro489=
  • NP_001041638.1:p.Pro488=
  • NP_001041639.1:p.Pro488=
  • NP_001121897.1:p.Pro516=
  • NP_001280119.1:p.Pro503=
  • NP_001280120.1:p.Pro499=
  • NP_001280121.1:p.Pro396=
  • NP_001280124.1:p.Pro488=
  • NP_001280125.1:p.Pro396=
  • NP_001337579.1:p.Pro373=
  • NP_001337580.1:p.Pro373=
  • NP_036354.1:p.Pro513=
  • LRG_220t1:c.1548G>C
  • LRG_220:g.16063G>C
  • LRG_220p1:p.Pro516=
  • NC_000001.10:g.45795080C>G
  • NR_146882.1:n.1902G>C
  • NR_146883.1:n.1716G>C
Links:
dbSNP: rs143796254
NCBI 1000 Genomes Browser:
rs143796254
Molecular consequence:
  • NR_146882.1:n.1902G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.1:n.1716G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001048171.1:c.1506G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001048172.1:c.1467G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001048173.1:c.1464G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001048174.1:c.1464G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001128425.1:c.1548G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293190.1:c.1509G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293191.1:c.1497G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293192.1:c.1188G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293195.1:c.1464G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293196.1:c.1188G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001350650.1:c.1119G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001350651.1:c.1119G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_012222.2:c.1539G>C - 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
SCV000697685Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Likely benign
(Aug 29, 2019)
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, SCV000697685.2

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

Last Updated: Jun 25, 2021

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