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NM_001079668.3(NKX2-1):c.1050del (p.Gln350fs) AND Benign hereditary chorea

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 14, 2017
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:
RCV000585667.2

Allele description [Variation Report for NM_001079668.3(NKX2-1):c.1050del (p.Gln350fs)]

NM_001079668.3(NKX2-1):c.1050del (p.Gln350fs)

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.1050del (p.Gln350fs)
HGVS:
  • NC_000014.9:g.36517434del
  • NG_013365.1:g.7792del
  • NM_001079668.3:c.1050delMANE SELECT
  • NM_003317.4:c.960del
  • NP_001073136.1:p.Gln350fs
  • NP_003308.1:p.Gln320fs
  • NC_000014.8:g.36986639del
  • NM_003317.3:c.960del
  • p.(Pro320Hisfs*31)
Protein change:
Q320fs
Links:
dbSNP: rs1555349146
NCBI 1000 Genomes Browser:
rs1555349146
Molecular consequence:
  • NM_001079668.3:c.1050del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003317.4:c.960del - frameshift variant - [Sequence Ontology: SO:0001589]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000693462Center of Genomic medicine, Geneva, University Hospital of Geneva
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 14, 2017) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot 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 Center of Genomic medicine, Geneva, University Hospital of Geneva, SCV000693462.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant (deletion of one nucleotide) in the NKX2-1 gene was identified in a mother and a daughter, who are both diagnosed with non-Huntington familial chorea.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 1, 2023