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NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) AND West syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 15, 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:
RCV003488334.2

Allele description [Variation Report for NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)]

NM_139058.3(ARX):c.306GGC[17] (p.Ala109_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[17] (p.Ala109_Ala115dup)
Other names:
NP_620689.1:p.(Ala109_Ala115dup)
HGVS:
  • NC_000023.11:g.25013662CGC[17]
  • NG_008281.1:g.7260GGC[17]
  • NG_052655.1:g.233CGC[17]
  • NM_139058.3:c.306GGC[17]MANE SELECT
  • NP_620689.1:p.Ala109_Ala115dup
  • NC_000023.10:g.25031776_25031777insGCCGCCGCCGCCGCCGCCGCC
  • NC_000023.10:g.25031779CGC[17]
  • NM_139058.2:c.315_335dupGGCGGCGGCGGCGGCGGCGGC
  • NM_139058.3:c.315_335dupMANE SELECT
Links:
OMIM: 300382.0001; dbSNP: rs387906492
NCBI 1000 Genomes Browser:
rs387906492
Molecular consequence:
  • NM_139058.3:c.306GGC[17] - inframe_insertion - [Sequence Ontology: SO:0001821]
Observations:
1

Condition(s)

Name:
West syndrome
Identifiers:
MONDO: MONDO:0018097; MedGen: C0037769

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004232654Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 15, 2023) 		maternalclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan, SCV004232654.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Zygosity: Hemizygosis

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024