NM_015166.4(MLC1):c.135dup (p.Cys46fs) AND Megalencephalic leukoencephalopathy with subcortical cysts

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 16, 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:: RCV001274276.1

Allele description [Variation Report for NM_015166.4(MLC1):c.135dup (p.Cys46fs)]

NM_015166.4(MLC1):c.135dup (p.Cys46fs)

Gene:

MLC1:modulator of VRAC current 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

22q13.33

Genomic location:

Preferred name:

NM_015166.4(MLC1):c.135dup (p.Cys46fs)

HGVS:

NC_000022.11:g.50084773dup
NG_009162.1:g.6162dup
NM_001376472.1:c.135dup
NM_001376473.1:c.135dup
NM_001376474.1:c.135dup
NM_001376475.1:c.135dup
NM_001376476.1:c.135dup
NM_001376477.1:c.135dup
NM_001376478.1:c.135dup
NM_001376479.1:c.135dup
NM_001376480.1:c.135dup
NM_001376481.1:c.135dup
NM_001376482.1:c.135dup
NM_001376483.1:c.135dup
NM_001376484.1:c.-59+587dup
NM_015166.4:c.135dupMANE SELECT
NM_139202.3:c.135dup
NP_001363401.1:p.Cys46fs
NP_001363402.1:p.Cys46fs
NP_001363403.1:p.Cys46fs
NP_001363404.1:p.Cys46fs
NP_001363405.1:p.Cys46fs
NP_001363406.1:p.Cys46fs
NP_001363407.1:p.Cys46fs
NP_001363408.1:p.Cys46fs
NP_001363409.1:p.Cys46fs
NP_001363410.1:p.Cys46fs
NP_001363411.1:p.Cys46fs
NP_001363412.1:p.Cys46fs
NP_055981.1:p.Cys46fs
NP_055981.1:p.Cys46fs
NP_631941.1:p.Cys46fs
NC_000022.10:g.50523196_50523197insG
NC_000022.10:g.50523202dup
NM_015166.3:c.135dup
NM_015166.3:c.135dupC
NM_015166.4:c.135dupCMANE SELECT
NM_139202.3:c.135dupC
NR_164811.1:n.482dup
NR_164812.1:n.266dup
NR_164813.1:n.659dup

Protein change:

C46fs

Links:

OMIM: 605908.0011; dbSNP: rs80358241

NCBI 1000 Genomes Browser:

rs80358241

Molecular consequence:

NM_001376472.1:c.135dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001376473.1:c.135dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001376474.1:c.135dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001376475.1:c.135dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001376476.1:c.135dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001376477.1:c.135dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001376478.1:c.135dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001376479.1:c.135dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001376480.1:c.135dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001376481.1:c.135dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001376482.1:c.135dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001376483.1:c.135dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_015166.4:c.135dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_139202.3:c.135dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001376484.1:c.-59+587dup - intron variant - [Sequence Ontology: SO:0001627]
NR_164811.1:n.482dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_164812.1:n.266dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_164813.1:n.659dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Megalencephalic leukoencephalopathy with subcortical cysts
Synonyms:: VAN DER KNAAP DISEASE
Identifiers:: MONDO: MONDO:0011391; MedGen: C1858854

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001458247	Natera, Inc.	no assertion criteria provided	Pathogenic (Sep 16, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001458247

Natera, Inc.

no assertion criteria provided

Pathogenic
(Sep 16, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV001458247.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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