NM_001961.4(EEF2):c.1632T>C (p.His544=) AND Spinocerebellar ataxia type 26

Clinical significance:Benign (Last evaluated: Jul 30, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001657723.1

Allele description [Variation Report for NM_001961.4(EEF2):c.1632T>C (p.His544=)]

NM_001961.4(EEF2):c.1632T>C (p.His544=)

Gene:
EEF2:eukaryotic translation elongation factor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_001961.4(EEF2):c.1632T>C (p.His544=)
HGVS:
  • NC_000019.10:g.3979410A>G
  • NG_042274.1:g.11054T>C
  • NM_001961.4:c.1632T>CMANE SELECT
  • NP_001952.1:p.His544=
  • NC_000019.9:g.3979408A>G
  • NM_001961.3:c.1632T>C
Links:
dbSNP: rs36526
NCBI 1000 Genomes Browser:
rs36526
Molecular consequence:
  • NM_001961.4:c.1632T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Spinocerebellar ataxia type 26 (SCA26)
Identifiers:
MONDO: MONDO:0012246; MedGen: C1836395; Orphanet: 101112; OMIM: 609306

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001875942Nilou-Genome Labcriteria provided, single submitter
Benign
(Jul 30, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Nilou-Genome Lab, SCV001875942.1

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

Last Updated: Nov 6, 2021

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