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NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile) AND Spinocerebellar ataxia type 28

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Jun 11, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000031941.8

Allele description [Variation Report for NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile)]

NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile)

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.1961C>T (p.Thr654Ile)
HGVS:
  • NC_000018.10:g.12340220G>A
  • NG_023361.1:g.42057C>T
  • NM_006796.3:c.1961C>TMANE SELECT
  • NP_006787.2:p.Thr654Ile
  • NP_006787.2:p.Thr654Ile
  • LRG_666t1:c.1961C>T
  • LRG_666:g.42057C>T
  • LRG_666p1:p.Thr654Ile
  • NC_000018.9:g.12340219G>A
  • NM_006796.2:c.1961C>T
  • Q9Y4W6:p.Thr654Ile
Protein change:
T654I; THR654ILE
Links:
UniProtKB: Q9Y4W6#VAR_064402; OMIM: 604581.0009; dbSNP: rs151344513
NCBI 1000 Genomes Browser:
rs151344513
Molecular consequence:
  • NM_006796.3:c.1961C>T - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000044670OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 2010)
germlineliterature only

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

SCV001190266Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Jun 11, 2019)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

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

Facile, rapid, and large-area periodic patterning of semiconductor substrates with submicron inorganic structures.

Kempa TJ, Bediako DK, Jones EC, Lieber CM, Nocera DG.

J Am Chem Soc. 2015 Mar 25;137(11):3739-42. doi: 10.1021/ja5118717. Epub 2015 Mar 12.

PubMed [citation]
PMID:
25741869

Details of each submission

From OMIM, SCV000044670.3

#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 1961C-T transition in exon 15 of the AFG3L2 gene, resulting in a thr654-to-ile (T654I) 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 Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV001190266.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024