NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) AND Charcot-Marie-Tooth disease

Germline classification:: Uncertain significance (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000789093.1

Allele description [Variation Report for NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys)]

NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys)

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.1532A>G (p.Tyr511Cys)

HGVS:

NC_000019.10:g.10155017T>C
NG_028016.3:g.81270A>G
NM_001130823.3:c.1532A>GMANE SELECT
NM_001318730.2:c.1484A>G
NM_001318731.2:c.1169A>G
NM_001379.4:c.1484A>G
NP_001124295.1:p.Tyr511Cys
NP_001305659.1:p.Tyr495Cys
NP_001305660.1:p.Tyr390Cys
NP_001370.1:p.Tyr495Cys
LRG_362t1:c.1532A>G
LRG_362:g.81270A>G
LRG_362p1:p.Tyr511Cys
NC_000019.9:g.10265693T>C
NM_001130823.1:c.1532A>G
NM_001379.2:c.1484A>G

Protein change:

Y390C; TYR495CYS

Links:

OMIM: 126375.0001; dbSNP: rs199473690

NCBI 1000 Genomes Browser:

rs199473690

Molecular consequence:

NM_001130823.3:c.1532A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001318730.2:c.1484A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001318731.2:c.1169A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001379.4:c.1484A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Charcot-Marie-Tooth disease
Synonyms:: Charcot-Marie-Tooth Neuropathy
Identifiers:: MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000928444	Inherited Neuropathy Consortium	no assertion criteria provided	Uncertain significance	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000928444

Inherited Neuropathy Consortium

no assertion criteria provided

Uncertain significance

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss.

Klein CJ, Botuyan MV, Wu Y, Ward CJ, Nicholson GA, Hammans S, Hojo K, Yamanishi H, Karpf AR, Wallace DC, Simon M, Lander C, Boardman LA, Cunningham JM, Smith GE, Litchy WJ, Boes B, Atkinson EJ, Middha S, B Dyck PJ, Parisi JE, Mer G, et al.

Nat Genet. 2011 Jun;43(6):595-600. doi: 10.1038/ng.830. Epub 2011 May 1.

PubMed [citation]

PMID:: 21532572
PMCID:: PMC3102765

Details of each submission

From Inherited Neuropathy Consortium, SCV000928444.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 30, 2024

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