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NM_001378969.1(KCND3):c.611C>T (p.Thr204Met) AND Spinocerebellar ataxia type 19/22

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 12, 2021
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:
RCV001647138.1

Allele description [Variation Report for NM_001378969.1(KCND3):c.611C>T (p.Thr204Met)]

NM_001378969.1(KCND3):c.611C>T (p.Thr204Met)

Gene:
KCND3:potassium voltage-gated channel subfamily D member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.2
Genomic location:
Preferred name:
NM_001378969.1(KCND3):c.611C>T (p.Thr204Met)
HGVS:
  • NC_000001.11:g.111982116G>A
  • NG_032011.2:g.12040C>T
  • NM_001378969.1:c.611C>TMANE SELECT
  • NM_001378970.1:c.611C>T
  • NM_004980.5:c.611C>T
  • NM_172198.3:c.611C>T
  • NP_001365898.1:p.Thr204Met
  • NP_001365899.1:p.Thr204Met
  • NP_004971.2:p.Thr204Met
  • NP_751948.1:p.Thr204Met
  • LRG_445t1:c.611C>T
  • LRG_445:g.12040C>T
  • NC_000001.10:g.112524738G>A
  • NM_004980.4:c.611C>T
Protein change:
T204M
Links:
dbSNP: rs2101997230
NCBI 1000 Genomes Browser:
rs2101997230
Molecular consequence:
  • NM_001378969.1:c.611C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378970.1:c.611C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004980.5:c.611C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172198.3:c.611C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Spinocerebellar ataxia type 19/22 (SCA19)
Synonyms:
Spinocerebellar ataxia 19; Spinocerebellar ataxia 22
Identifiers:
MONDO: MONDO:0011819; MedGen: C1846367; Orphanet: 98772; OMIM: 607346

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001519150Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 12, 2021) 		de novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

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 Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, SCV001519150.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024