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NM_183065.4(TMEM107):c.*671G>T AND Leukoencephalopathy with calcifications and cysts

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 6, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001194499.1

Allele description [Variation Report for NM_183065.4(TMEM107):c.*671G>T]

NM_183065.4(TMEM107):c.*671G>T

Genes:
SNORD118:small nucleolar RNA, C/D box 118 [Gene - OMIM - HGNC]
TMEM107:transmembrane protein 107 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_183065.4(TMEM107):c.*671G>T
HGVS:
  • NC_000017.11:g.8173532C>A
  • NG_054916.1:g.7880G>T
  • NG_056674.1:g.5057G>T
  • NM_001351278.2:c.*671G>T
  • NM_001351279.2:c.*671G>T
  • NM_001351280.2:c.*671G>T
  • NM_032354.5:c.*671G>T
  • NM_183065.4:c.*671G>TMANE SELECT
  • LRG_1204t1:n.57G>T
  • LRG_1204:g.5057G>T
  • NC_000017.10:g.8076850C>A
  • NR_033294.1:n.57G>T
  • NR_033294.2:n.57G>T
  • NR_147092.2:n.922G>T
Links:
dbSNP: rs886039784
NCBI 1000 Genomes Browser:
rs886039784
Molecular consequence:
  • NM_001351278.2:c.*671G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001351279.2:c.*671G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001351280.2:c.*671G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_032354.5:c.*671G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_183065.4:c.*671G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_033294.2:n.57G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147092.2:n.922G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Leukoencephalopathy with calcifications and cysts
Synonyms:
LABRUNE SYNDROME; Leukoencephalopathy, brain calcifications, and cysts
Identifiers:
MONDO: MONDO:0013803; MedGen: C3281200; OMIM: 614561

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001364126Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine
no assertion criteria provided
Pathogenic
(Apr 6, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, SCV001364126.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022