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NM_001136472.2(LITAF):c.*1870C>T AND Charcot-Marie-Tooth disease, type I

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000355283.5

Allele description [Variation Report for NM_001136472.2(LITAF):c.*1870C>T]

NM_001136472.2(LITAF):c.*1870C>T

Gene:
LITAF:lipopolysaccharide induced TNF factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.13
Genomic location:
Preferred name:
NM_001136472.2(LITAF):c.*1870C>T
HGVS:
  • NC_000016.10:g.11547767G>A
  • NG_009008.1:g.44184C>T
  • NM_001136472.2:c.*1870C>TMANE SELECT
  • NM_001136473.1:c.*1995C>T
  • NM_004862.4:c.*1870C>T
  • LRG_253t1:c.*1995C>T
  • LRG_253:g.44184C>T
  • NC_000016.9:g.11641623G>A
  • NM_004862.3:c.*1870C>T
  • NR_024320.2:n.2490C>T
Links:
dbSNP: rs150472475
NCBI 1000 Genomes Browser:
rs150472475
Molecular consequence:
  • NM_001136472.2:c.*1870C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001136473.1:c.*1995C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_004862.4:c.*1870C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_024320.2:n.2490C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Charcot-Marie-Tooth disease, type I (CMT1)
Synonyms:
Charcot-Marie-Tooth Neuropathy Type 1; Hereditary Motor and Sensory Neuropathy 1; Charcot-Marie-Tooth, Type 1
Identifiers:
MONDO: MONDO:0019011; MedGen: C0751036

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000394801Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000394801.2

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

Last Updated: Dec 24, 2023