NM_002529.4(NTRK1):c.2236_2265dup (p.Leu746_Glu755dup) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 1, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV002425339.2

Allele description [Variation Report for NM_002529.4(NTRK1):c.2236_2265dup (p.Leu746_Glu755dup)]

NM_002529.4(NTRK1):c.2236_2265dup (p.Leu746_Glu755dup)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

1q23.1

Genomic location:

Preferred name:

NM_002529.4(NTRK1):c.2236_2265dup (p.Leu746_Glu755dup)

HGVS:

NC_000001.11:g.156881487_156881516dup
NG_007493.1:g.70738_70767dup
NM_001007792.1:c.2128_2157dup
NM_001012331.2:c.2218_2247dup
NM_002529.4:c.2236_2265dupMANE SELECT
NP_001007793.1:p.Leu710_Glu719dup
NP_001012331.1:p.Leu740_Glu749dup
NP_002520.2:p.Leu746_Glu755dup
LRG_261t1:c.2128_2157dup
LRG_261t2:c.2218_2247dup
LRG_261:g.70738_70767dup
LRG_261p1:p.Leu710_Glu719dup
NC_000001.10:g.156851275_156851276insGAGTTGGAGCGGCCACGTGCCTGCCCACCA
NC_000001.10:g.156851279_156851308dup
NM_001012331.1:c.2218_2247dupTTGGAGCGGCCACGTGCCTGCCCACCAGAG

Links:

dbSNP: rs1327580455

NCBI 1000 Genomes Browser:

rs1327580455

Molecular consequence:

NM_001007792.1:c.2128_2157dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001012331.2:c.2218_2247dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_002529.4:c.2236_2265dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002730863	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 1, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002730863

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 1, 2021)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002730863.2

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

Description

The c.2218_2247dup30 variant (also known as p.L740_E749dup), located in coding exon 16 of the NTRK1 gene, results from an in-frame duplication of 30 nucleotides at nucleotide positions 2218 to 2247. This results in the duplication of 10 extra residues (LERPRACPPE) between codons 740 and 749. This amino acid region is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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