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NM_001079668.3(NKX2-1):c.196del (p.Ala66fs) 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:
RCV003237312.1

Allele description [Variation Report for NM_001079668.3(NKX2-1):c.196del (p.Ala66fs)]

NM_001079668.3(NKX2-1):c.196del (p.Ala66fs)

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.196del (p.Ala66fs)
HGVS:
  • NC_000014.9:g.36519255del
  • NG_013365.1:g.5974del
  • NM_001079668.3:c.196delMANE SELECT
  • NM_003317.4:c.106del
  • NP_001073136.1:p.Ala66fs
  • NP_003308.1:p.Ala36fs
  • NC_000014.8:g.36988460del
  • NM_001079668.2:c.196delG
Protein change:
A36fs
Molecular consequence:
  • NM_001079668.3:c.196del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003317.4:c.106del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
2

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003935975Molecular Diagnostics Lab, Nemours Children's Health, Delaware
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 10, 2020) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes2not providednot provided2yesclinical 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, SCV003935975.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyesclinical testing
(GTR000334192.3)		 PubMed (1)
2not provided1not providedyesclinical testing
(GTR000334192.3)		 PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1bloodnot provided
(GTR000334192.3)		1not providednot providednot provided
2unknownyes1bloodnot provided
(GTR000334192.3)		1not providednot providednot provided

Last Updated: Jul 8, 2023