U.S. flag

An official website of the United States government

NM_001378969.1(KCND3):c.806C>G (p.Pro269Arg) AND Spinocerebellar ataxia type 19/22

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 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:
RCV001809143.1

Allele description [Variation Report for NM_001378969.1(KCND3):c.806C>G (p.Pro269Arg)]

NM_001378969.1(KCND3):c.806C>G (p.Pro269Arg)

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.806C>G (p.Pro269Arg)
HGVS:
  • NC_000001.11:g.111981921G>C
  • NG_032011.2:g.12235C>G
  • NM_001378969.1:c.806C>GMANE SELECT
  • NM_001378970.1:c.806C>G
  • NM_004980.5:c.806C>G
  • NM_172198.3:c.806C>G
  • NP_001365898.1:p.Pro269Arg
  • NP_001365899.1:p.Pro269Arg
  • NP_004971.2:p.Pro269Arg
  • NP_751948.1:p.Pro269Arg
  • LRG_445t1:c.806C>G
  • LRG_445:g.12235C>G
  • NC_000001.10:g.112524543G>C
  • NM_004980.4:c.806C>G
Protein change:
P269R
Links:
dbSNP: rs2101995994
NCBI 1000 Genomes Browser:
rs2101995994
Molecular consequence:
  • NM_001378969.1:c.806C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378970.1:c.806C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004980.5:c.806C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172198.3:c.806C>G - 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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002059571Centogene AG - the Rare Disease Company
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Jan 12, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 Centogene AG - the Rare Disease Company, SCV002059571.1

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

Last Updated: Dec 24, 2023