NM_001130823.3(DNMT1):c.4636C>G (p.Pro1546Ala) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 10, 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:: RCV000660480.5

Allele description [Variation Report for NM_001130823.3(DNMT1):c.4636C>G (p.Pro1546Ala)]

NM_001130823.3(DNMT1):c.4636C>G (p.Pro1546Ala)

Genes:

LOC126862853:CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:10246117-10247316 [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.4636C>G (p.Pro1546Ala)

HGVS:

NC_000019.10:g.10136141G>C
NG_028016.3:g.100146C>G
NM_001130823.3:c.4636C>GMANE SELECT
NM_001318730.2:c.4597C>G
NM_001318731.2:c.4273C>G
NM_001379.4:c.4588C>G
NP_001124295.1:p.Pro1546Ala
NP_001305659.1:p.Pro1533Ala
NP_001305660.1:p.Pro1425Ala
NP_001370.1:p.Pro1530Ala
LRG_362:g.100146C>G
NC_000019.9:g.10246817G>C
NM_001130823.2:c.4636C>G

Protein change:

P1425A

Links:

dbSNP: rs1555687655

NCBI 1000 Genomes Browser:

rs1555687655

Molecular consequence:

NM_001130823.3:c.4636C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001318730.2:c.4597C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001318731.2:c.4273C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001379.4:c.4588C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Identifiers:: MONDO: MONDO:0011397; MedGen: C3807295; Orphanet: 314404; OMIM: 604121

Name:: Hereditary sensory neuropathy-deafness-dementia syndrome
Synonyms:: HSN IE; NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA; Hereditary sensory neuropathy type IE
Identifiers:: MONDO: MONDO:0013584; MedGen: C3279885; Orphanet: 456318; OMIM: 614116

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000782579	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 10, 2017)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000782579

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 10, 2017)

de novo

clinical testing

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	de novo	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Nothing to display

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000782579.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Jun 10, 2023

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