NM_139058.3(ARX):c.306GGC[15] (p.Ala111_Ala115dup) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 3, 2018
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:: RCV001576923.3

Allele description [Variation Report for NM_139058.3(ARX):c.306GGC[15] (p.Ala111_Ala115dup)]

NM_139058.3(ARX):c.306GGC[15] (p.Ala111_Ala115dup)

Genes:

LOC109610631:aristaless related homeobox polyalanine expansion region [Gene]
ARX:aristaless related homeobox [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

Xp21.3

Genomic location:

Preferred name:

NM_139058.3(ARX):c.306GGC[15] (p.Ala111_Ala115dup)

HGVS:

NC_000023.11:g.25013662CGC[15]
NG_008281.1:g.7260GGC[15]
NG_052655.1:g.233CGC[15]
NM_139058.3:c.306GGC[15]MANE SELECT
NP_620689.1:p.Ala111_Ala115dup
NC_000023.10:g.25031779CGC[15]
NM_139058.2:c.321_335dupGGCGGCGGCGGCGGC

Links:

dbSNP: rs387906492

NCBI 1000 Genomes Browser:

rs387906492

Molecular consequence:

NM_139058.3:c.306GGC[15] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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NADH dehydrogenase subunit 3 (mitochondrion) [Bos taurus]
NADH dehydrogenase subunit 3 (mitochondrion) [Bos taurus]
gi|532694269|gb|AGU00802.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001804203	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Aug 3, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001804203

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Aug 3, 2018)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001804203.1

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

Description

Alanine repeat expansion in the first polyalanine tract of the ARX protein, extending the allele to 21 repeats; Polyalanine repeat expansions of 18 or fewer repeats have been observed in unaffected adult males in population databases and undergoing testing at GeneDx (Lek et al., 2015); Polyalanine repeat expansions of 21-22 repeats have not been previously reported in the literature to our knowledge (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016)

#	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		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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