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NM_001079668.3(NKX2-1):c.*210T>A

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 22, 2021)
Last evaluated:
Aug 10, 2019
Accession:
VCV000313133.3
Variation ID:
313133
Description:
single nucleotide variant
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NM_001079668.3(NKX2-1):c.*210T>A

Allele ID
320501
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q13.3
Genomic location
14: 36517068 (GRCh38) GRCh38 UCSC
14: 36986273 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.36986273A>T
NC_000014.9:g.36517068A>T
NG_013365.1:g.8158T>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000014.9:36517067:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.37820 (A)

Allele frequency
1000 Genomes Project 0.62181
The Genome Aggregation Database (gnomAD) 0.67687
Links
ClinGen: CA10634835
dbSNP: rs10139625
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000274909.2
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000369541.2
Benign 1 criteria provided, single submitter Aug 10, 2019 RCV001690038.1
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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
Benign
(Aug 10, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001914357.1
Submitted: (Sep 22, 2021)
Evidence details
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Choreoathetosis, hypothyroidism, and neonatal respiratory distress
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000386660.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Benign hereditary chorea
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000386659.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs10139625...

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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 Sep 24, 2021