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NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del) AND Spinocerebellar ataxia type 13

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 28, 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:
RCV000990242.2

Allele description [Variation Report for NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del)]

NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del)

Gene:
KCNC3:potassium voltage-gated channel subfamily C member 3 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del)
HGVS:
  • NC_000019.10:g.50323201CGGGGGTGG[1]
  • NC_000019.10:g.50323201_50323209CGGGGGTGG[1]
  • NG_008134.2:g.11162ACCCCCGCC[1]
  • NM_001372305.1:c.1509ACCCCCGCC[1]
  • NM_004977.3:c.1737ACCCCCGCC[1]MANE SELECT
  • NP_001359234.1:p.Pro507_Pro509del
  • NP_004968.2:p.Pro583_Pro585del
  • LRG_668t1:c.1737ACCCCCGCC[1]
  • LRG_668:g.11162ACCCCCGCC[1]
  • LRG_668p1:p.Pro583_Pro585del
  • NC_000019.9:g.50826456_50826464del
  • NC_000019.9:g.50826456_50826464delGGCGGGGGT
  • NC_000019.9:g.50826458CGGGGGTGG[1]
  • NM_004977.2:c.1746_1754del
Links:
dbSNP: rs747618525
NCBI 1000 Genomes Browser:
rs747618525
Molecular consequence:
  • NM_001372305.1:c.1509ACCCCCGCC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004977.3:c.1737ACCCCCGCC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Spinocerebellar ataxia type 13 (SCA13)
Synonyms:
Cerebellar ataxia, autosomal dominant with mental retardation; Spinocerebellar Ataxia Type13
Identifiers:
MONDO: MONDO:0011529; MedGen: C1854488; Orphanet: 98768; OMIM: 605259

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001141120Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Likely benign
(May 28, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001141120.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2024