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NM_001079668.3(NKX2-1):c.338_342del (p.Val113fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 4, 2019)
Last evaluated:
Jan 18, 2019
Accession:
VCV000638002.1
Variation ID:
638002
Description:
5bp deletion
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NM_001079668.3(NKX2-1):c.338_342del (p.Val113fs)

Allele ID
625814
Variant type
Deletion
Variant length
5 bp
Cytogenetic location
14q13.3
Genomic location
14: 36519106-36519110 (GRCh38) GRCh38 UCSC
14: 36988311-36988315 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.36988312_36988316del
NC_000014.9:g.36519107_36519111del
NM_001079668.3:c.338_342del MANE Select NP_001073136.1:p.Val113fs frameshift
... more HGVS
Protein change
V83fs, V113fs
Other names
-
Canonical SPDI
NC_000014.9:36519105:CCCCAC:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1594406926
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jan 18, 2019 RCV000790468.1
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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
1 162
SFTA3 - - GRCh38
GRCh37
- 150

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 18, 2019)
criteria provided, single submitter
Method: clinical testing
Choreoathetosis, hypothyroidism, and neonatal respiratory distress
Allele origin: unknown
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues
Accession: SCV000929795.1
Submitted: (Apr 04, 2019)
Evidence details

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 rs1594406926...

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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 Jun 27, 2020