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NM_001130823.3(DNMT1):c.382C>A (p.Pro128Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 4, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000235285.1

Allele description [Variation Report for NM_001130823.3(DNMT1):c.382C>A (p.Pro128Thr)]

NM_001130823.3(DNMT1):c.382C>A (p.Pro128Thr)

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.382C>A (p.Pro128Thr)
HGVS:
  • NC_000019.10:g.10180413G>T
  • NG_028016.3:g.55874C>A
  • NM_001130823.3:c.382C>AMANE SELECT
  • NM_001318730.2:c.382C>A
  • NM_001318731.2:c.19C>A
  • NM_001379.4:c.382C>A
  • NP_001124295.1:p.Pro128Thr
  • NP_001305659.1:p.Pro128Thr
  • NP_001305660.1:p.Pro7Thr
  • NP_001370.1:p.Pro128Thr
  • LRG_362t1:c.382C>A
  • LRG_362:g.55874C>A
  • NC_000019.9:g.10291089G>T
  • NM_001130823.1:c.382C>A
  • NM_001379.2:c.382C>A
Protein change:
P128T
Links:
dbSNP: rs146601335
NCBI 1000 Genomes Browser:
rs146601335
Molecular consequence:
  • NM_001130823.3:c.382C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318730.2:c.382C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318731.2:c.19C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379.4:c.382C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000294177GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Apr 4, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000294177.9

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

Description

A variant of uncertain significance has been identified in the DNMT1 gene. The P128T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P128T variant is observed in 18/66,718 (0.03%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P128T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Sep 29, 2024