NM_001007792.1(NTRK1):c.1088-179C>T AND Familial medullary thyroid carcinoma

Clinical significance:Uncertain significance (Last evaluated: Jul 2, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000708816.1

Allele description [Variation Report for NM_001007792.1(NTRK1):c.1088-179C>T]

NM_001007792.1(NTRK1):c.1088-179C>T

Gene:
NTRK1:neurotrophic receptor tyrosine kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.1
Genomic location:
Preferred name:
NM_001007792.1(NTRK1):c.1088-179C>T
HGVS:
  • NC_000001.11:g.156874392C>T
  • NG_007493.1:g.63643C>T
  • NM_001007792.1:c.1088-179C>T
  • NM_001012331.1:c.1178-179C>T
  • NM_002529.3:c.1187C>T
  • NP_002520.2:p.Ser396Leu
  • LRG_261t1:c.1088-179C>T
  • LRG_261t2:c.1178-179C>T
  • LRG_261t3:c.1187C>T
  • LRG_261:g.63643C>T
  • LRG_261p3:p.Ser396Leu
  • NC_000001.10:g.156844184C>T
Protein change:
S396L
Links:
dbSNP: rs199646180
NCBI 1000 Genomes Browser:
rs199646180
Molecular consequence:
  • NM_001007792.1:c.1088-179C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001012331.1:c.1178-179C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002529.3:c.1187C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial medullary thyroid carcinoma (MTC)
Synonyms:
Thyroid cancer, familial medullary; MTC, familial
Identifiers:
MONDO: MONDO:0007958; MedGen: C1833921; Orphanet: 653; OMIM: 155240

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000837802Mendelicscriteria provided, single submitter
Uncertain significance
(Jul 2, 2018)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mendelics, SCV000837802.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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