NM_001007792.1(NTRK1):c.834_840del (p.Gln278fs) AND Hereditary insensitivity to pain with anhidrosis

Clinical significance:Pathogenic (Last evaluated: Sep 17, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001382531.1

Allele description [Variation Report for NM_001007792.1(NTRK1):c.834_840del (p.Gln278fs)]

NM_001007792.1(NTRK1):c.834_840del (p.Gln278fs)

Gene:
NTRK1:neurotrophic receptor tyrosine kinase 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q23.1
Genomic location:
Preferred name:
NM_001007792.1(NTRK1):c.834_840del (p.Gln278fs)
HGVS:
  • NC_000001.11:g.156873706_156873712del
  • NG_007493.1:g.62957_62963del
  • NM_001007792.1:c.834_840del
  • NM_001012331.1:c.924_930del
  • NM_002529.3:c.924_930del
  • NP_001007793.1:p.Gln278fs
  • NP_001012331.1:p.Gln308fs
  • NP_002520.2:p.Gln308fs
  • LRG_261t1:c.834_840del
  • LRG_261t2:c.924_930del
  • LRG_261t3:c.924_930del
  • LRG_261:g.62957_62963del
  • LRG_261p1:p.Gln278fs
  • LRG_261p2:p.Gln308fs
  • LRG_261p3:p.Gln308fs
  • NC_000001.10:g.156843494_156843500del
  • NC_000001.10:g.156843498_156843504del
  • NM_001012331.1:c.924_930delGCCGGCA
Protein change:
Q278fs
Links:
dbSNP: rs1571695851
NCBI 1000 Genomes Browser:
rs1571695851
Molecular consequence:
  • NM_001007792.1:c.834_840del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001012331.1:c.924_930del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002529.3:c.924_930del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hereditary insensitivity to pain with anhidrosis (CIPA)
Synonyms:
FAMILIAL DYSAUTONOMIA, TYPE II; Insensitivity to pain, congenital, with anhidrosis; Neuropathy, congenital sensory, with anhidrosis; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009746; MedGen: C0020074; Orphanet: 642; OMIM: 256800

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001581362Invitaecriteria provided, single submitter
Pathogenic
(Sep 17, 2020)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.

Mardy S, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.

Am J Hum Genet. 1999 Jun;64(6):1570-9.

PubMed [citation]
PMID:
10330344
PMCID:
PMC1377900

Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families.

Miura Y, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.

Hum Genet. 2000 Jan;106(1):116-24. Erratum in: Hum Genet 2000 May;106(5):575.

PubMed [citation]
PMID:
10982191
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001581362.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Gln308Hisfs*154) in the NTRK1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with congenital insensitivity to pain (PMID: 10330344). It is also known as c.1008_1014delGCCGGCA in the literature. Loss-of-function variants in NTRK1 are known to be pathogenic (PMID: 10982191). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: May 14, 2021

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