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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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002730863Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Sep 1, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002730863.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024