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NM_001130823.3(DNMT1):c.1008G>A (p.Lys336=) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 19, 2020
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:
RCV002377550.2

Allele description [Variation Report for NM_001130823.3(DNMT1):c.1008G>A (p.Lys336=)]

NM_001130823.3(DNMT1):c.1008G>A (p.Lys336=)

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.1008G>A (p.Lys336=)
HGVS:
  • NC_000019.10:g.10162667C>T
  • NG_028016.3:g.73620G>A
  • NM_001130823.3:c.1008G>AMANE SELECT
  • NM_001318730.2:c.960G>A
  • NM_001318731.2:c.645G>A
  • NM_001379.4:c.960G>A
  • NP_001124295.1:p.Lys336=
  • NP_001305659.1:p.Lys320=
  • NP_001305660.1:p.Lys215=
  • NP_001370.1:p.Lys320=
  • LRG_362:g.73620G>A
  • NC_000019.9:g.10273343C>T
  • NM_001130823.3:c.1008G>A
  • NM_001379.2:c.960G>A
Links:
dbSNP: rs750048459
NCBI 1000 Genomes Browser:
rs750048459
Molecular consequence:
  • NM_001130823.3:c.1008G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001318730.2:c.960G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001318731.2:c.645G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001379.4:c.960G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV002690647Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 19, 2020) 		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, SCV002690647.2

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

Description

The c.960G>A variant (also known as p.K320K), located in coding exon 12 of the DNMT1 gene, results from a G to A substitution at nucleotide position 960. This nucleotide substitution does not change the lysine at codon 320. This change occurs in the last base pair of coding exon 12, which makes it likely to have some effect on normal mRNA splicing, however, loss of function of DNMT1 has not been established as the mechanism of disease. This nucleotide position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 25, 2025