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NM_001007792.1(NTRK1):c.205G>A (p.Val69Met)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jul 4, 2021)
Last evaluated:
Apr 1, 2021
Accession:
VCV000456616.4
Variation ID:
456616
Description:
single nucleotide variant
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NM_001007792.1(NTRK1):c.205G>A (p.Val69Met)

Allele ID
447271
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q23.1
Genomic location
1: 156864735 (GRCh38) GRCh38 UCSC
1: 156834527 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.156834527G>A
NC_000001.11:g.156864735G>A
NM_001012331.1:c.295G>A NP_001012331.1:p.Val99Met missense
... more HGVS
Protein change
V99M, V69M
Other names
-
Canonical SPDI
NC_000001.11:156864734:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00032
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Exome Aggregation Consortium (ExAC) 0.00017
The Genome Aggregation Database (gnomAD) 0.00010
Links
ClinGen: CA1168904
dbSNP: rs201509045
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Nov 11, 2020 RCV000559579.4
Uncertain significance 1 criteria provided, single submitter Apr 1, 2021 RCV001532557.1
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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 benign
(Nov 11, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary insensitivity to pain with anhidrosis
Allele origin: germline
Invitae
Accession: SCV000626967.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Apr 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001748171.1
Submitted: (Jul 04, 2021)
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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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

Text-mined citations for rs201509045...

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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 Jul 13, 2021