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NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val) AND Spinocerebellar ataxia type 28

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Oct 1, 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:
RCV000023376.8

Allele description [Variation Report for NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val)]

NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val)

Gene:
AFG3L2:AFG3 like matrix AAA peptidase subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18p11.21
Genomic location:
Preferred name:
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val)
HGVS:
  • NC_000018.10:g.12337520T>C
  • NG_023361.1:g.44757A>G
  • NM_006796.3:c.1996A>GMANE SELECT
  • NP_006787.2:p.Met666Val
  • NP_006787.2:p.Met666Val
  • LRG_666t1:c.1996A>G
  • LRG_666:g.44757A>G
  • LRG_666p1:p.Met666Val
  • NC_000018.9:g.12337519T>C
  • NM_006796.2:c.1996A>G
  • Q9Y4W6:p.Met666Val
Protein change:
M666V; MET666VAL
Links:
UniProtKB: Q9Y4W6#VAR_064405; OMIM: 604581.0006; dbSNP: rs151344514
NCBI 1000 Genomes Browser:
rs151344514
Molecular consequence:
  • NM_006796.3:c.1996A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Spinocerebellar ataxia type 28 (SCA28)
Identifiers:
MONDO: MONDO:0012450; MedGen: C1853249; Orphanet: 101109; OMIM: 610246

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044667OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 2010) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV000054610GeneReviews
no classification provided
not providedgermlineliterature only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

Cagnoli C, Stevanin G, Brussino A, Barberis M, Mancini C, Margolis RL, Holmes SE, Nobili M, Forlani S, Padovan S, Pappi P, Zaros C, Leber I, Ribai P, Pugliese L, Assalto C, Brice A, Migone N, Dürr A, Brusco A.

Hum Mutat. 2010 Oct;31(10):1117-24. doi: 10.1002/humu.21342.

PubMed [citation]
PMID:
20725928

Details of each submission

From OMIM, SCV000044667.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected members of 2 unrelated families with autosomal dominant spinocerebellar ataxia-28 (SCA28; 610246), Cagnoli et al. (2010) identified a heterozygous 1996A-G transition in exon 16 of the AFG3L2 gene, resulting in a met666-to-val (M666V) substitution in a highly conserved residue in the C-terminal proteolytic peptidase-M41 domain. Haplotype analysis indicated a founder effect. The mutation was not identified in 380 French or Italian control chromosomes.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From GeneReviews, SCV000054610.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024