NM_001079668.3(NKX2-1):c.695C>T (p.Pro232Leu) AND Choreoathetosis, hypothyroidism, and neonatal respiratory distress

Clinical significance:Pathogenic (Last evaluated: Aug 24, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001329567.1

Allele description [Variation Report for NM_001079668.3(NKX2-1):c.695C>T (p.Pro232Leu)]

NM_001079668.3(NKX2-1):c.695C>T (p.Pro232Leu)

Genes:
NKX2-1:NK2 homeobox 1 [Gene - OMIM - HGNC]
SFTA3:surfactant associated 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q13.3
Genomic location:
Preferred name:
NM_001079668.3(NKX2-1):c.695C>T (p.Pro232Leu)
HGVS:
  • NC_000014.9:g.36517789G>A
  • NG_013365.1:g.7437C>T
  • NM_001079668.3:c.695C>TMANE SELECT
  • NM_003317.4:c.605C>T
  • NP_001073136.1:p.Pro232Leu
  • NP_003308.1:p.Pro202Leu
  • NC_000014.8:g.36986994G>A
  • NM_001079668.2:c.695C>T
  • NM_003317.3:c.605C>T
Protein change:
P202L
Molecular consequence:
  • NM_001079668.3:c.695C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003317.4:c.605C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001521040Baylor Geneticscriteria provided, single submitter
Pathogenic
(Aug 24, 2020)
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 Baylor Genetics, SCV001521040.1

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

Description

This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Mar 28, 2021

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