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NM_006946.4(SPTBN2):c.1307T>C (p.Met436Thr) AND Spinocerebellar ataxia type 5

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 27, 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:
RCV001027673.4

Allele description [Variation Report for NM_006946.4(SPTBN2):c.1307T>C (p.Met436Thr)]

NM_006946.4(SPTBN2):c.1307T>C (p.Met436Thr)

Gene:
SPTBN2:spectrin beta, non-erythrocytic 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_006946.4(SPTBN2):c.1307T>C (p.Met436Thr)
HGVS:
  • NC_000011.10:g.66708184A>G
  • NG_016150.2:g.26178T>C
  • NM_006946.4:c.1307T>CMANE SELECT
  • NM_006946.4:c.1307T>C
  • NP_008877.2:p.Met436Thr
  • NC_000011.9:g.66475655A>G
  • NM_006946.2:c.1307T>C
  • NM_006946.3:c.1307T>C
Protein change:
M436T
Links:
dbSNP: rs1554986345
NCBI 1000 Genomes Browser:
rs1554986345
Molecular consequence:
  • NM_006946.4:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Spinocerebellar ataxia type 5 (SCA5)
Identifiers:
MONDO: MONDO:0010848; MedGen: C0752123; Orphanet: 98766; OMIM: 600224

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001190235Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Jun 27, 2019)
unknownclinical testing

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

Summary from all submissions

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

Citations

PubMed

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 Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV001190235.1

#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: Jun 23, 2024