NM_001079668.3(NKX2-1):c.*581del AND Benign hereditary chorea

Clinical significance:Likely benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000368160.2

Allele description [Variation Report for NM_001079668.3(NKX2-1):c.*581del]

NM_001079668.3(NKX2-1):c.*581del

Genes:
NKX2-1:NK2 homeobox 1 [Gene - OMIM - HGNC]
SFTA3:surfactant associated 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
14q13.3
Genomic location:
Preferred name:
NM_001079668.3(NKX2-1):c.*581del
HGVS:
  • NC_000014.9:g.36516699del
  • NG_013365.1:g.8529del
  • NM_001079668.3:c.*581delMANE SELECT
  • NM_003317.4:c.*581del
  • NC_000014.8:g.36985904del
  • NM_001079668.2:c.*581delC
Links:
dbSNP: rs534281105
NCBI 1000 Genomes Browser:
rs534281105
Molecular consequence:
  • NM_001079668.3:c.*581del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_003317.4:c.*581del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Benign hereditary chorea (BHC)
Synonyms:
HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA
Identifiers:
MONDO: MONDO:0021011; MedGen: C0393584; Orphanet: 1429; OMIM: 118700

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000386639Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000386639.2

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

Last Updated: Sep 29, 2021

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