NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del) AND multiple conditions

Clinical significance:Likely benign (Last evaluated: Oct 29, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001504893.1

Allele description [Variation Report for NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del)]

NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del)

Genes:
LOC109610631:aristaless related homeobox polyalanine expansion region [Gene]
ARX:aristaless related homeobox [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xp21.3
Genomic location:
Preferred name:
NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del)
HGVS:
  • NC_000023.11:g.25013539_25013553del
  • NG_008281.1:g.7405_7419del
  • NG_052655.1:g.110_124del
  • NM_139058.3:c.451_465delMANE SELECT
  • NP_620689.1:p.Ala151_Ala155del
  • NC_000023.10:g.25031647_25031661del
  • NC_000023.10:g.25031656_25031670del
  • NM_139058.2:c.451_465del
  • NM_139058.2:c.451_465del15
Links:
dbSNP: rs757588621
NCBI 1000 Genomes Browser:
rs757588621
Molecular consequence:
  • NM_139058.3:c.451_465del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Epileptic encephalopathy, early infantile, 1 (DEE1)
Synonyms:
INFANTILE SPASM SYNDROME, X-LINKED 1; X-linked infantile spasms; West's syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010632; MedGen: C3463992; OMIM: 308350
Name:
Mental retardation, with or without seizures, ARX-related, X-linked (XLID29)
Synonyms:
MENTAL RETARDATION, X-LINKED 29; MENTAL RETARDATION, X-LINKED 32; MENTAL RETARDATION, X-LINKED 33; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010317; MedGen: C0796244; Orphanet: 777; OMIM: 300419

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001709779Invitaecriteria provided, single submitter
Likely benign
(Oct 29, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001709779.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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