NM_001079668.3(NKX2-1):c.338_342del (p.Val113fs) AND Choreoathetosis, hypothyroidism, and neonatal respiratory distress

Clinical significance:Likely pathogenic (Last evaluated: Jan 18, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000790468.1

Allele description [Variation Report for NM_001079668.3(NKX2-1):c.338_342del (p.Val113fs)]

NM_001079668.3(NKX2-1):c.338_342del (p.Val113fs)

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.338_342del (p.Val113fs)
HGVS:
  • NC_000014.9:g.36519107_36519111del
  • NG_013365.1:g.6116_6120del
  • NM_001079668.3:c.338_342delMANE SELECT
  • NM_003317.4:c.248_252del
  • NP_001073136.1:p.Val113fs
  • NP_003308.1:p.Val83fs
  • NC_000014.8:g.36988312_36988316del
  • NM_001079668.2:c.338_342delTGGGG
Protein change:
V113fs
Links:
dbSNP: rs1594406926
NCBI 1000 Genomes Browser:
rs1594406926
Molecular consequence:
  • NM_001079668.3:c.338_342del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003317.4:c.248_252del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Choreoathetosis, hypothyroidism, and neonatal respiratory distress (CAHTP)
Synonyms:
BRAIN-LUNG-THYROID SYNDROME; CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH PULMONARY DYSFUNCTION
Identifiers:
MONDO: MONDO:0012593; MedGen: C1970269; Orphanet: 209905; OMIM: 610978

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000929795Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleaguescriteria provided, single submitter
Likely pathogenic
(Jan 18, 2019)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues, SCV000929795.1

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

Last Updated: Jun 27, 2020

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