VCV000561195.2 - ClinVar

NG_008845.2:g.6725GAA[(200_900)]

Germline

Classification

no assertion criteria provided. Learn more about how ClinVar calculates review status.

Pathogenic

2 out of 2 submissions contributed to this classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NG_008845.2:g.6725GAA[(200_900)]

Variation ID: 561195 Accession: VCV000561195.2

Type and length

Microsatellite, -

Location

Cytogenetic: 9q21.11 9: 69037287-69037304 (GRCh38) [ NCBI UCSC ] 9: 71652203-71652220 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Jan 16, 2020	Jan 16, 2020	May 1, 1999

HGVS

Nucleotide	Protein	Molecular consequence
NG_008845.2:g.6725GAA[(200_900)]
LRG_339:g.6725GAA[(200_900)]

Protein change

Other names

FXN, (GAA)n REPEAT EXPANSION, IVS1

Canonical SPDI

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

OMIM: 606829.0001 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
FXN		Gene associated with autosomal recessive phenotype	No evidence available	GRCh38 GRCh37	72	175
LOC108510657	-	-	-	GRCh38	-	23

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Friedreich ataxia	Pathogenic (1)	no assertion criteria provided	May 1, 1999	RCV000004184.5
Friedreich ataxia with retained reflexes	Pathogenic (1)	no assertion criteria provided	May 1, 1999	RCV000004185.5

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (May 01, 1999) C Contributing to aggregate classification	no assertion criteria provided Method: literature only	FRIEDREICH ATAXIA Affected status: not provided Allele origin: germline	OMIM Accession: SCV000024350.3 First in ClinVar: Apr 04, 2013 Last updated: Jan 16, 2020	Publications: PubMed (2) PubMed: 8596916‚ 10399865 Comment on evidence: GAA triplet repeat expansions between 200 and 900 copies in the first intron of the frataxin gene occurred in 71 of 74 FRDA (229300) patients … (more) GAA triplet repeat expansions between 200 and 900 copies in the first intron of the frataxin gene occurred in 71 of 74 FRDA (229300) patients studied by Campuzano et al. (1996). In unaffected individuals, the triplet repeat expansion numbered between 7 and 20 units. Among 101 FRDA patients homozygous for GAA expansion within the X25 gene, Coppola et al. (1999) found that 11 patients from 8 families had FRDA with retained reflexes in the lower limbs (FARR; see 229300). The mean size of the smaller allele was significantly less (408 +/- 252 vs 719 +/- 184 GAA triplets) in FARR patients. (less)

Pathogenic (May 01, 1999) C Contributing to aggregate classification	no assertion criteria provided Method: literature only	FRIEDREICH ATAXIA WITH RETAINED REFLEXES Affected status: not provided Allele origin: germline	OMIM Accession: SCV000024351.3 First in ClinVar: Apr 04, 2013 Last updated: Jan 16, 2020	Publications: PubMed (2) PubMed: 8596916‚ 10399865 Comment on evidence: GAA triplet repeat expansions between 200 and 900 copies in the first intron of the frataxin gene occurred in 71 of 74 FRDA (229300) patients … (more) GAA triplet repeat expansions between 200 and 900 copies in the first intron of the frataxin gene occurred in 71 of 74 FRDA (229300) patients studied by Campuzano et al. (1996). In unaffected individuals, the triplet repeat expansion numbered between 7 and 20 units. Among 101 FRDA patients homozygous for GAA expansion within the X25 gene, Coppola et al. (1999) found that 11 patients from 8 families had FRDA with retained reflexes in the lower limbs (FARR; see 229300). The mean size of the smaller allele was significantly less (408 +/- 252 vs 719 +/- 184 GAA triplets) in FARR patients. (less)

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study.	Coppola G	Journal of neurology	1999	PMID: 10399865
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.	Campuzano V	Science (New York, N.Y.)	1996	PMID: 8596916

Text-mined citations for this variant ...

Record last updated Apr 08, 2025

ClinVar Genomic variation as it relates to human health

NG_008845.2:g.6725GAA[(200_900)]

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...