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NM_002529.4(NTRK1):c.2046+1G>T

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 5, 2017)
Last evaluated:
Jul 17, 2017
Accession:
VCV000456612.1
Variation ID:
456612
Description:
single nucleotide variant
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NM_002529.4(NTRK1):c.2046+1G>T

Allele ID
447340
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q23.1
Genomic location
1: 156879363 (GRCh38) GRCh38 UCSC
1: 156849155 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_261:g.68614G>T
LRG_261t1:c.1938+1G>T
LRG_261t2:c.2028+1G>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:156879362:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA342940136
dbSNP: rs1452844753
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 Jul 17, 2017 RCV000539540.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NTRK1 - - GRCh38
GRCh37
677 723

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jul 17, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary insensitivity to pain with anhidrosis
Allele origin: germline
Invitae
Accession: SCV000626954.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change affects a donor splice site in intron 14 of the NTRK1 gene. It is expected to disrupt RNA splicing and likely results … (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 rs1452844753...

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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 Oct 24, 2021