NM_002529.4(NTRK1):c.482G>A (p.Arg161His) AND not provided

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Sep 1, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000431011.19

Allele description [Variation Report for NM_002529.4(NTRK1):c.482G>A (p.Arg161His)]

NM_002529.4(NTRK1):c.482G>A (p.Arg161His)

Gene:

NTRK1:neurotrophic receptor tyrosine kinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.1

Genomic location:

Preferred name:

NM_002529.4(NTRK1):c.482G>A (p.Arg161His)

HGVS:

NC_000001.11:g.156868157G>A
NG_007493.1:g.57408G>A
NM_001007792.1:c.392G>A
NM_001012331.2:c.482G>A
NM_002529.4:c.482G>AMANE SELECT
NP_001007793.1:p.Arg131His
NP_001012331.1:p.Arg161His
NP_001012331.1:p.Arg161His
NP_002520.2:p.Arg161His
NP_002520.2:p.Arg161His
LRG_261t1:c.392G>A
LRG_261t2:c.482G>A
LRG_261t3:c.482G>A
LRG_261:g.57408G>A
LRG_261p1:p.Arg131His
LRG_261p2:p.Arg161His
LRG_261p3:p.Arg161His
NC_000001.10:g.156837949G>A
NM_001012331.1:c.482G>A
NM_002529.3:c.482G>A
p.Arg161His

Protein change:

R131H

Links:

dbSNP: rs150271893

NCBI 1000 Genomes Browser:

rs150271893

Molecular consequence:

NM_001007792.1:c.392G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001012331.2:c.482G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002529.4:c.482G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000513995	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (May 26, 2023)	germline	clinical testing	Citation Link,
SCV001715578	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 28, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004042452	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Sep 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000513995

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(May 26, 2023)

germline

clinical testing

Citation Link,

SCV001715578

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 28, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004042452

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(Sep 1, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From GeneDx, SCV000513995.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

In silico analysis supports that this missense variant does not alter protein structure/function; Reported in patients with neuroblastoma (Lipska et al., 2009); This variant is associated with the following publications: (PMID: 20003389)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV001715578.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV004042452.11

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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