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NM_182961.4(SYNE1):c.10217A>C (p.Asp3406Ala) AND Autosomal recessive ataxia, Beauce type

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 8, 2016
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:
RCV000660383.5

Allele description [Variation Report for NM_182961.4(SYNE1):c.10217A>C (p.Asp3406Ala)]

NM_182961.4(SYNE1):c.10217A>C (p.Asp3406Ala)

Gene:
SYNE1:spectrin repeat containing nuclear envelope protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q25.2
Genomic location:
Preferred name:
NM_182961.4(SYNE1):c.10217A>C (p.Asp3406Ala)
HGVS:
  • NC_000006.12:g.152362252T>G
  • NG_012855.2:g.280148A>C
  • NM_033071.3:c.10238A>C
  • NM_033071.5:c.10238A>C
  • NM_182961.4:c.10217A>CMANE SELECT
  • NP_149062.2:p.Asp3413Ala
  • NP_892006.3:p.Asp3406Ala
  • LRG_427t1:c.10217A>C
  • LRG_427t2:c.10238A>C
  • LRG_427:g.280148A>C
  • LRG_427p1:p.Asp3406Ala
  • NC_000006.11:g.152683387T>G
  • NM_182961.2:c.10217A>C
  • NM_182961.3:c.10217A>C
Protein change:
D3406A
Links:
dbSNP: rs546645393
NCBI 1000 Genomes Browser:
rs546645393
Molecular consequence:
  • NM_033071.5:c.10238A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_182961.4:c.10217A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive ataxia, Beauce type
Synonyms:
ATAXIA, RECESSIVE, OF BEAUCE; Spinocerebellar ataxia, autosomal recessive 8; SYNE1-Related Autosomal Recessive Cerebellar Ataxia
Identifiers:
MONDO: MONDO:0012549; MedGen: C1853116; Orphanet: 88644; OMIM: 610743

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000782459Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 8, 2016) 		paternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalunknownnot 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 Mayo Clinic Laboratories, Mayo Clinic, SCV000782459.1

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

Last Updated: Sep 29, 2024