NM_015166.3(MLC1):c.512G>T (p.Cys171Phe) AND Megalencephalic leukoencephalopathy with subcortical cysts 1

Clinical significance:Benign (Last evaluated: Nov 3, 2011)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000020714.2

Allele description [Variation Report for NM_015166.3(MLC1):c.512G>T (p.Cys171Phe)]

NM_015166.3(MLC1):c.512G>T (p.Cys171Phe)

Gene:
MLC1:megalencephalic leukoencephalopathy with subcortical cysts 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_015166.3(MLC1):c.512G>T (p.Cys171Phe)
HGVS:
  • NC_000022.11:g.50077414C>A
  • NG_009162.1:g.13516G>T
  • NM_015166.3:c.512G>T
  • NP_055981.1:p.Cys171Phe
  • NC_000022.10:g.50515843C>A
  • Q15049:p.Cys171Phe
Protein change:
C171F
Links:
UniProtKB: Q15049#VAR_051186; dbSNP: 6010260
GMAF:
0.1216(A), 6010260
NCBI 1000 Genomes Browser:
rs6010260
Allele Frequency:
0.1023, GO-ESP
Molecular consequence:
  • NM_015166.3:c.512G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1)
Synonyms:
VAN DER KNAAP DISEASE; Megalencephalic leukoencephalopathy with subcortical cysts
Identifiers:
MedGen: C1858854; Orphanet: 2478; OMIM: 604004

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000041279GeneReviewsno assertion criteria providedbenign
(Nov 3, 2011)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV000041279.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Benign.

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

Last Updated: Sep 30, 2017