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NM_001130823.3(DNMT1):c.382C>A (p.Pro128Thr) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 18, 2019
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:
RCV002356327.2

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)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002623239Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Nov 18, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002623239.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024