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NM_002529.4(NTRK1):c.429-1G>C AND Hereditary insensitivity to pain with anhidrosis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 5, 2020
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:
RCV001329488.8

Allele description [Variation Report for NM_002529.4(NTRK1):c.429-1G>C]

NM_002529.4(NTRK1):c.429-1G>C

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.429-1G>C
HGVS:
  • NC_000001.11:g.156868103G>C
  • NG_007493.1:g.57354G>C
  • NM_001007792.1:c.339-1G>C
  • NM_001012331.2:c.429-1G>C
  • NM_002529.4:c.429-1G>CMANE SELECT
  • LRG_261t1:c.339-1G>C
  • LRG_261t2:c.429-1G>C
  • LRG_261:g.57354G>C
  • NC_000001.10:g.156837895G>C
  • NM_001012331.1:c.429-1G>C
Links:
OMIM: 191315.0006; dbSNP: rs748672380
NCBI 1000 Genomes Browser:
rs748672380
Molecular consequence:
  • NM_001007792.1:c.339-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001012331.2:c.429-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_002529.4:c.429-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001520943Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 5, 2020) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical 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 Baylor Genetics, SCV001520943.1

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

Description

This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Nov 24, 2024