NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu) AND not provided

Clinical significance:Benign (Last evaluated: Jun 25, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001705233.1

Allele description [Variation Report for NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu)]

NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu)

Gene:
DNMT1:DNA methyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu)
HGVS:
  • NC_000019.10:g.10173127C>T
  • NG_028016.3:g.63160G>A
  • NM_001130823.3:c.731G>AMANE SELECT
  • NM_001318730.2:c.683G>A
  • NM_001318731.2:c.368G>A
  • NM_001379.4:c.683G>A
  • NP_001124295.1:p.Gly244Glu
  • NP_001305659.1:p.Gly228Glu
  • NP_001305660.1:p.Gly123Glu
  • NP_001370.1:p.Gly228Glu
  • LRG_362t1:c.731G>A
  • LRG_362:g.63160G>A
  • NC_000019.9:g.10283803C>T
  • NM_001130823.1:c.731G>A
Protein change:
G123E
Links:
dbSNP: rs150999369
NCBI 1000 Genomes Browser:
rs150999369
Molecular consequence:
  • NM_001130823.3:c.731G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318730.2:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318731.2:c.368G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379.4:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000278968GeneDxcriteria provided, single submitter
Benign
(Jun 25, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000278968.6

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

Last Updated: Nov 27, 2021

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