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NM_001007792.1(NTRK1):c.1698-4del

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000292891.5
Variation ID:
292891
Description:
1bp deletion
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NM_001007792.1(NTRK1):c.1698-4del

Allele ID
277584
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
1q23.1
Genomic location
1: 156879118 (GRCh38) GRCh38 UCSC
1: 156848910 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.156848910del
NC_000001.11:g.156879118del
NM_001007792.1:c.1698-4del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:156879117:A:
Functional consequence
-
Global minor allele frequency (GMAF)
0.08926 ()

Allele frequency
The Genome Aggregation Database (gnomAD) 0.05909
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.06670
Trans-Omics for Precision Medicine (TOPMed) 0.06455
The Genome Aggregation Database (gnomAD), exomes 0.05932
Exome Aggregation Consortium (ExAC) 0.06250
1000 Genomes Project 0.08926
Links
ClinGen: CA1169497
dbSNP: rs1799770
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 4 criteria provided, multiple submitters, no conflicts Dec 3, 2020 RCV000328341.4
Benign 1 criteria provided, single submitter Mar 8, 2018 RCV000616650.3
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000712457.1
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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
672 718

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Congenital Insensitivity to Pain with Anhidrosis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000349057.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Mar 08, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000729338.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000842955.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Jun 19, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary insensitivity to pain with anhidrosis
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001156960.2
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary insensitivity to pain with anhidrosis
Allele origin: germline
Invitae
Accession: SCV001723824.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Hereditary insensitivity to pain with anhidrosis
Allele origin: germline
Natera, Inc.
Accession: SCV001456798.1
Submitted: (Dec 28, 2020)
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 rs1799770...

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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 14, 2021