NM_001079668.3(NKX2-1):c.524C>A (p.Ser175Ter) AND Brain-lung-thyroid syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 2014
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000201946.1

Allele description [Variation Report for NM_001079668.3(NKX2-1):c.524C>A (p.Ser175Ter)]

NM_001079668.3(NKX2-1):c.524C>A (p.Ser175Ter)

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.524C>A (p.Ser175Ter)

HGVS:

NC_000014.9:g.36517960G>T
NG_013365.1:g.7266C>A
NM_001079668.3:c.524C>AMANE SELECT
NM_003317.4:c.434C>A
NP_001073136.1:p.Ser175Ter
NP_003308.1:p.Ser145Ter
NC_000014.8:g.36987165G>T
NM_001079668.2:c.524C>A

Protein change:

S145*

Links:

dbSNP: rs863225300

NCBI 1000 Genomes Browser:

rs863225300

Molecular consequence:

NM_001079668.3:c.524C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_003317.4:c.434C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Brain-lung-thyroid syndrome
Synonyms:: Choreoathetosis, hypothyroidism, and neonatal respiratory distress; CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH PULMONARY DYSFUNCTION
Identifiers:: MONDO: MONDO:0012593; MedGen: C1970269; Orphanet: 209905; OMIM: 610978

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000256880	Mendelics	no assertion criteria provided	Pathogenic (Aug 1, 2014)	de novo	clinical testing	PubMed (2) [See all records that cite these PMIDs] 18788921, 24555207

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000256880

Mendelics

no assertion criteria provided

Pathogenic
(Aug 1, 2014)

de novo

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea.

Ferrara AM, De Michele G, Salvatore E, Di Maio L, Zampella E, Capuano S, Del Prete G, Rossi G, Fenzi G, Filla A, Macchia PE.

Thyroid. 2008 Sep;18(9):1005-9. doi: 10.1089/thy.2008.0085.

PubMed [citation]

PMID:: 18788921

NKX2-1-Related Disorders.

Patel NJ, Jankovic J.

2014 Feb 20 [updated 2023 Jun 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 24555207

Details of each submission

From Mendelics, SCV000256880.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 7, 2024

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