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NM_006796.3(AFG3L2):c.1994_1995delinsTT (p.Gly665Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 28, 2017
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:
RCV000624881.2

Allele description [Variation Report for NM_006796.3(AFG3L2):c.1994_1995delinsTT (p.Gly665Val)]

NM_006796.3(AFG3L2):c.1994_1995delinsTT (p.Gly665Val)

Gene:
AFG3L2:AFG3 like matrix AAA peptidase subunit 2 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
18p11.21
Genomic location:
Preferred name:
NM_006796.3(AFG3L2):c.1994_1995delinsTT (p.Gly665Val)
HGVS:
  • NC_000018.10:g.12337521_12337522delinsAA
  • NG_023361.1:g.44755_44756delinsTT
  • NM_006796.3:c.1994_1995delinsTTMANE SELECT
  • NP_006787.2:p.Gly665Val
  • LRG_666:g.44755_44756delinsTT
  • NC_000018.9:g.12337520_12337521delinsAA
  • NM_006796.2:c.1994_1995delGCinsTT
Protein change:
G665V
Links:
dbSNP: rs1555670560
NCBI 1000 Genomes Browser:
rs1555670560
Molecular consequence:
  • NM_006796.3:c.1994_1995delinsTT - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000742164Ambry Genetics
criteria provided, single submitter

(ambry_reporting_categories_2017)		Uncertain significance
(Mar 28, 2017) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1yesclinical 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

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, Finardi A, Cagnoli C, Tempia F, Frontali M, Veneziano L, Sacco T, Boda E, Brussino A, Bonn F, Castellotti B, Baratta S, Mariotti C, Gellera C, Fracasso V, Magri S, Langer T, et al.

Nat Genet. 2010 Apr;42(4):313-21. doi: 10.1038/ng.544. Epub 2010 Mar 7.

PubMed [citation]
PMID:
20208537
See all PubMed Citations (6)

Details of each submission

From Ambry Genetics, SCV000742164.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyesclinical testing PubMed (6)

Description

Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Dec 11, 2022