NM_000144.5(FXN):c.517T>G (p.Trp173Gly) AND Friedreich ataxia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 30, 2010
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:: RCV000004191.2

Allele description [Variation Report for NM_000144.5(FXN):c.517T>G (p.Trp173Gly)]

NM_000144.5(FXN):c.517T>G (p.Trp173Gly)

Gene:

FXN:frataxin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q21.11

Genomic location:

Preferred name:

NM_000144.5(FXN):c.517T>G (p.Trp173Gly)

HGVS:

NC_000009.12:g.69072646T>G
NG_008845.2:g.42084T>G
NM_000144.5:c.517T>GMANE SELECT
NM_181425.3:c.525T>G
NP_000135.2:p.Trp173Gly
NP_852090.1:p.Thr175=
LRG_339t1:c.517T>G
LRG_339:g.42084T>G
LRG_339p1:p.Trp173Gly
NC_000009.11:g.71687562T>G

Protein change:

W173G; TRP173GLY

Links:

OMIM: 606829.0007; dbSNP: rs56214919

Molecular consequence:

NM_000144.5:c.517T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_181425.3:c.525T>G - synonymous variant - [Sequence Ontology: SO:0001819]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024357	OMIM	no assertion criteria provided	Likely pathogenic (Dec 30, 2010)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 9989622, 17703324, 17331979

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000024357

OMIM

no assertion criteria provided

Likely pathogenic
(Dec 30, 2010)

germline

literature only

PubMed (3)
[See all records that cite these PMIDs]

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: point mutations and clinical presentation of compound heterozygotes.

Cossée M, Dürr A, Schmitt M, Dahl N, Trouillas P, Allinson P, Kostrzewa M, Nivelon-Chevallier A, Gustavson KH, Kohlschütter A, Müller U, Mandel JL, Brice A, Koenig M, Cavalcanti F, Tammaro A, De Michele G, Filla A, Cocozza S, Labuda M, Montermini L, Poirier J, et al.

Ann Neurol. 1999 Feb;45(2):200-6.

PubMed [citation]

PMID:: 9989622

Frataxin gene point mutations in Italian Friedreich ataxia patients.

Gellera C, Castellotti B, Mariotti C, Mineri R, Seveso V, Didonato S, Taroni F.

Neurogenetics. 2007 Nov;8(4):289-99. Epub 2007 Aug 17.

PubMed [citation]

PMID:: 17703324

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000024357.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

Description

In 2 unrelated patients with Friedreich ataxia (229300), Cossee et al. (1999) identified a TGG-to-GGG change in exon 5a of the FXN gene, resulting in a trp173-to-gly (W173G) substitution.

Gellera et al. (2007) identified a 517T-G transversion, resulting in a W173G substitution, in compound heterozygosity with the GAA expansion (606829.0001) in FA patients from 3 unrelated families of Italian origin. All patients had a severe form of the disorder with relatively early onset and presence of cardiomyopathy.

Using transfected HEK293T cells, Shan et al. (2007) showed that the W173G mutation interfered with FXN protein expression.

#	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: Apr 7, 2025

ClinVar

Relating variation to medicine