Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_002529.4(NTRK1):c.1659del (p.Arg554fs)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 24, 2019
Accession:
VCV000579700.3
Variation ID:
579700
Description:
1bp deletion
Help

NM_002529.4(NTRK1):c.1659del (p.Arg554fs)

Allele ID
556636
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
1q23.1
Genomic location
1: 156876426 (GRCh38) GRCh38 UCSC
1: 156846218 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_261:g.65677del
NM_001012331.1:c.1641delT frameshift
LRG_261t1:c.1551del LRG_261p1:p.Arg518fs
... more HGVS
Protein change
R518fs, R554fs, R548fs
Other names
-
Canonical SPDI
NC_000001.11:156876425:T:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs1363364803
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Sep 24, 2019 RCV000703050.3
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 24, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary insensitivity to pain with anhidrosis
Allele origin: germline
Invitae
Accession: SCV000831931.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Arg548Glyfs*104) in the NTRK1 gene. It is expected to result in an absent or disrupted protein … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families. Miura Y Human genetics 2000 PMID: 10982191

Text-mined citations for rs1363364803...

Help
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