NM_000144.5(FXN):c.385-2A>G AND Friedreich ataxia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 8, 1996
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:: RCV000004187.4

Allele description [Variation Report for NM_000144.5(FXN):c.385-2A>G]

NM_000144.5(FXN):c.385-2A>G

Gene:

FXN:frataxin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q21.11

Genomic location:

Preferred name:

NM_000144.5(FXN):c.385-2A>G

HGVS:

NC_000009.12:g.69064936A>G
NG_008845.2:g.34374A>G
NM_000144.5:c.385-2A>GMANE SELECT
NM_181425.3:c.385-2A>G
LRG_339t1:c.385-2A>G
LRG_339:g.34374A>G
NC_000009.11:g.71679852A>G
NM_000144.4:c.385-2A>G

Nucleotide change:

IVS3, A-G, -2

Links:

OMIM: 606829.0003; dbSNP: rs140987490

NCBI 1000 Genomes Browser:

rs140987490

Molecular consequence:

NM_000144.5:c.385-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_181425.3:c.385-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Friedreich ataxia (FRDA)
Synonyms:: Friedreich's ataxia; Spinocerebellar ataxia, Friedreich; Hereditary spinal sclerosis; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0100339; MedGen: C0016719

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024353	OMIM	no assertion criteria provided	Pathogenic (Mar 8, 1996)	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

SCV000024353

OMIM

no assertion criteria provided

Pathogenic
(Mar 8, 1996)

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.

Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, et al.

Science. 1996 Mar 8;271(5254):1423-7.

PubMed [citation]

PMID:: 8596916

Details of each submission

From OMIM, SCV000024353.2

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

Description

Campuzano et al. (1996) found compound heterozygosity in a member of a Spanish family with Friedreich ataxia (229300) for the FRDA expansion repeat (606829.0001) and an A-to-G transition which disrupted the acceptor splice site at the end of the third intron.

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

Last Updated: Jul 15, 2024

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