NM_003640.5(ELP1):c.2204+6T>C 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:: RCV000789357.1

Allele description [Variation Report for NM_003640.5(ELP1):c.2204+6T>C]

NM_003640.5(ELP1):c.2204+6T>C

Gene:

ELP1:elongator acetyltransferase complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.3

Genomic location:

Preferred name:

NM_003640.5(ELP1):c.2204+6T>C

HGVS:

NC_000009.12:g.108899816A>G
NG_008788.1:g.39513T>C
NM_001318360.2:c.1862+6T>C
NM_001330749.2:c.1157+6T>C
NM_003640.4(ELP1):c.2204+6T>C
NM_003640.5:c.2204+6T>CMANE SELECT
LRG_251t1:c.2204+6T>C
LRG_251:g.39513T>C
NC_000009.11:g.111662096A>G
NM_003640.3:c.2204+6T>C
NM_003640.4(ELP1):c.2204+6T>C
NM_003640.4:c.2204+6T>C
c.2204+6T>C (p.?)

Nucleotide change:

IVS20DS, T-C, +6

Links:

OMIM: 603722.0001; dbSNP: rs111033171

NCBI 1000 Genomes Browser:

rs111033171

Molecular consequence:

NM_001318360.2:c.1862+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001330749.2:c.1157+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_003640.5:c.2204+6T>C - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000928711	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

SCV000928711

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

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.

Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D, Scheidereit C, Maayan C, Axelrod FB, Gusella JF.

Am J Hum Genet. 2001 Mar;68(3):598-605. Epub 2001 Jan 22.

PubMed [citation]

PMID:: 11179008
PMCID:: PMC1274473

Details of each submission

From Inherited Neuropathy Consortium, SCV000928711.1

#	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: Mar 16, 2024

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