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NM_006796.3(AFG3L2):c.2394G>C (p.Ter798Tyr) AND Spastic ataxia 5

Germline classification:
Uncertain significance (1 submission)
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:
RCV003388747.2

Allele description [Variation Report for NM_006796.3(AFG3L2):c.2394G>C (p.Ter798Tyr)]

NM_006796.3(AFG3L2):c.2394G>C (p.Ter798Tyr)

Genes:
AFG3L2:AFG3 like matrix AAA peptidase subunit 2 [Gene - OMIM - HGNC]
TUBB6:tubulin beta 6 class V [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18p11.21
Genomic location:
Preferred name:
NM_006796.3(AFG3L2):c.2394G>C (p.Ter798Tyr)
HGVS:
  • NC_000018.10:g.12329565C>G
  • NG_023361.1:g.52712G>C
  • NM_001303525.2:c.*382C>G
  • NM_006796.3:c.2394G>CMANE SELECT
  • NP_006787.2:p.Ter798Tyr
  • NP_006787.2:p.Ter798Tyr
  • LRG_666t1:c.2394G>C
  • LRG_666:g.52712G>C
  • LRG_666p1:p.Ter798Tyr
  • NC_000018.9:g.12329564C>G
  • NM_006796.2:c.2394G>C
Molecular consequence:
  • NM_001303525.2:c.*382C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_006796.3:c.2394G>C - stop lost - [Sequence Ontology: SO:0001578]

Condition(s)

Name:
Spastic ataxia 5
Synonyms:
Spastic ataxia 5, autosomal recessive
Identifiers:
MONDO: MONDO:0013776; MedGen: C3280977; Orphanet: 313772; OMIM: 614487

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004100508Neuberg Centre For Genomic Medicine, NCGM
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Neuberg Centre For Genomic Medicine, NCGM, SCV004100508.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The stop lost p.*798Yext*32 in AFG3L2 (NM_006796.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.*798Yext*32 variant is observed in 26/30,616 (0.0849%) alleles from individuals of South Asian background in gnomAD Exomes. The nucleotide c.2394 in AFG3L2 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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

Last Updated: May 26, 2024