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NM_001079668.3(NKX2-1):c.464-2A>G

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Jun 15, 2009
Accession:
VCV000008982.1
Variation ID:
8982
Description:
single nucleotide variant
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NM_001079668.3(NKX2-1):c.464-2A>G

Allele ID
24021
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q13.3
Genomic location
14: 36518022 (GRCh38) GRCh38 UCSC
14: 36987227 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.36987227T>C
NC_000014.9:g.36518022T>C
NM_001079668.3:c.464-2A>G MANE Select splice acceptor
... more HGVS
Protein change
-
Other names
IVS2AS, A-G, -2
Canonical SPDI
NC_000014.9:36518021:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA120031
OMIM: 600635.0011
dbSNP: rs587776708
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Jun 15, 2009 RCV000009545.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NKX2-1 - - GRCh38
GRCh37
1 163
SFTA3 - - GRCh38
GRCh37
- 151

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 15, 2009)
no assertion criteria provided
Method: literature only
CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH PULMONARY DYSFUNCTION
Allele origin: germline
OMIM
Accession: SCV000029763.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. Carré A Human molecular genetics 2009 PMID: 19336474
Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. Doyle DA The Journal of pediatrics 2004 PMID: 15289765

Text-mined citations for rs587776708...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 17, 2020