NM_139058.3(ARX):c.557dup (p.Pro187fs) AND X-linked lissencephaly with abnormal genitalia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 20, 2023
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:: RCV003991290.2

Allele description [Variation Report for NM_139058.3(ARX):c.557dup (p.Pro187fs)]

NM_139058.3(ARX):c.557dup (p.Pro187fs)

Gene:

ARX:aristaless related homeobox [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

Xp21.3

Genomic location:

Preferred name:

NM_139058.3(ARX):c.557dup (p.Pro187fs)

HGVS:

NC_000023.11:g.25013439dup
NG_008281.1:g.7511dup
NG_052655.1:g.10dup
NM_139058.3:c.557dupMANE SELECT
NP_620689.1:p.Pro187fs
NC_000023.10:g.25031556dup

Protein change:

P187fs

Molecular consequence:

NM_139058.3:c.557dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: X-linked lissencephaly with abnormal genitalia
Synonyms:: Lissencephaly 2, X-linked
Identifiers:: MONDO: MONDO:0010268; MedGen: C1846171; Orphanet: 452; OMIM: 300215

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004808616	MVZ Medizinische Genetik Mainz	criteria provided, single submitter (UK Practice Guidelines For Variant Classification V4 01 2020)	Pathogenic (Nov 20, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004808616

MVZ Medizinische Genetik Mainz

criteria provided, single submitter

(UK Practice Guidelines For Variant Classification V4 01 2020)

Pathogenic
(Nov 20, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From MVZ Medizinische Genetik Mainz, SCV004808616.1

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

Description

ACMG Criteria: PVS1,PM2_SUP

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

Last Updated: Sep 1, 2024

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