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NM_001130823.3(DNMT1):c.2315C>A (p.Thr772Asn) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 11, 2016
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:
RCV000236469.1

Allele description [Variation Report for NM_001130823.3(DNMT1):c.2315C>A (p.Thr772Asn)]

NM_001130823.3(DNMT1):c.2315C>A (p.Thr772Asn)

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.2315C>A (p.Thr772Asn)
HGVS:
  • NC_000019.10:g.10149919G>T
  • NG_028016.3:g.86368C>A
  • NM_001130823.3:c.2315C>AMANE SELECT
  • NM_001318730.2:c.2267C>A
  • NM_001318731.2:c.1952C>A
  • NM_001379.4:c.2267C>A
  • NP_001124295.1:p.Thr772Asn
  • NP_001305659.1:p.Thr756Asn
  • NP_001305660.1:p.Thr651Asn
  • NP_001370.1:p.Thr756Asn
  • LRG_362t1:c.2315C>A
  • LRG_362:g.86368C>A
  • NC_000019.9:g.10260595G>T
  • NM_001130823.1:c.2315C>A
  • NM_001130823.3:c.2315C>A
  • NM_001379.2:c.2267C>A
Protein change:
T651N
Links:
dbSNP: rs142562681
NCBI 1000 Genomes Browser:
rs142562681
Molecular consequence:
  • NM_001130823.3:c.2315C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318730.2:c.2267C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318731.2:c.1952C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379.4:c.2267C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000294179GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 11, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000294179.10

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

Description

The T772N variant has not been published in association with neuropathy to our knowledge. It was not observed with any significant frequency in the 1000 Genomes Project or in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The T772N variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. However, 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