NM_001079668.3(NKX2-1):c.336_345del (p.Val113fs) AND Brain-lung-thyroid syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 10, 2020
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:: RCV003237311.1

Allele description [Variation Report for NM_001079668.3(NKX2-1):c.336_345del (p.Val113fs)]

NM_001079668.3(NKX2-1):c.336_345del (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.336_345del (p.Val113fs)

HGVS:

NC_000014.9:g.36519105_36519114del
NG_013365.1:g.6114_6123del
NM_001079668.3:c.336_345delMANE SELECT
NM_003317.4:c.246_255del
NP_001073136.1:p.Val113fs
NP_003308.1:p.Val83fs
NC_000014.8:g.36988310_36988319del
NM_001079668.2:c.336_345delCGTGGGGGGC

Protein change:

V113fs

Molecular consequence:

NM_001079668.3:c.336_345del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003317.4:c.246_255del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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
SCV003935974	Molecular Diagnostics Lab, Nemours Children's Health, Delaware	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 10, 2020)	maternal	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003935974

Molecular Diagnostics Lab, Nemours Children's Health, Delaware

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 10, 2020)

maternal

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	1	not provided	not provided	1	not provided	clinical 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 Molecular Diagnostics Lab, Nemours Children's Health, Delaware, SCV003935974.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing (GTR000334192.3)	PubMed (1)

Description

large number of similarly affected family members according to the pedigree, but none have been tested.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	1	blood	not provided	(GTR000334192.3)	1	not provided	not provided	not provided

Last Updated: Jul 8, 2023

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