NM_001007792.1(NTRK1):c.1752_1753insT (p.Pro585fs) AND Hereditary insensitivity to pain with anhidrosis

Clinical significance:Pathogenic (Last evaluated: Sep 5, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000020469.2

Allele description [Variation Report for NM_001007792.1(NTRK1):c.1752_1753insT (p.Pro585fs)]

NM_001007792.1(NTRK1):c.1752_1753insT (p.Pro585fs)

Gene:
NTRK1:neurotrophic receptor tyrosine kinase 1 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
1q23.1
Genomic location:
Preferred name:
NM_001007792.1(NTRK1):c.1752_1753insT (p.Pro585fs)
HGVS:
  • NC_000001.11:g.156879176_156879177insT
  • NG_007493.1:g.68427_68428insT
  • NM_001007792.1:c.1752_1753insT
  • NM_001012331.1:c.1842_1843insT
  • NM_002529.3:c.1860_1861insT
  • NP_001007793.1:p.Pro585fs
  • NP_001012331.1:p.Pro615fs
  • NP_002520.2:p.Pro621fs
  • LRG_261t1:c.1752_1753insT
  • LRG_261t2:c.1842_1843insT
  • LRG_261t3:c.1860_1861insT
  • LRG_261:g.68427_68428insT
  • LRG_261p1:p.Pro585fs
  • LRG_261p2:p.Pro615fs
  • LRG_261p3:p.Pro621fs
  • NC_000001.10:g.156848968_156848969insT
Protein change:
P585fs
Links:
dbSNP: rs80356676
NCBI 1000 Genomes Browser:
rs80356676
Molecular consequence:
  • NM_001007792.1:c.1752_1753insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001012331.1:c.1842_1843insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002529.3:c.1860_1861insT - 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
SCV000040902GeneReviewsno assertion criteria providedpathologic
(Aug 5, 2008)
not providedcuration

SCV001520941Baylor Geneticscriteria provided, single submitter
Pathogenic
(Sep 5, 2019)
unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Abnormal neutrophil chemotactic activity in children with congenital insensitivity to pain with anhidrosis (CIPA): the role of nerve growth factor.

Beigelman A, Levy J, Hadad N, Pinsk V, Haim A, Fruchtman Y, Levy R.

Clin Immunol. 2009 Mar;130(3):365-72. doi: 10.1016/j.clim.2008.09.005. Epub 2008 Oct 26.

PubMed [citation]
PMID:
18955016

Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies.

Shatzky S, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.

Am J Med Genet. 2000 Jun 19;92(5):353-60.

PubMed [citation]
PMID:
10861667
See all PubMed Citations (4)

Details of each submission

From GeneReviews, SCV000040902.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

From Baylor Genetics, SCV001520941.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease-causing in multiple individuals [PMID: 18955016, 10861667, 28328124, ClinVar ID: 21306]

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

Last Updated: Mar 28, 2021

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