NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del) AND not provided

Clinical significance:Likely benign (Last evaluated: Apr 24, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000722715.2

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)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000853846Gharavi Laboratory,Columbia Universityno assertion criteria provided
Uncertain significance
(Sep 16, 2018)
germlineresearch

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

SCV001945450GeneDxcriteria provided, single submitter
Likely benign
(Apr 24, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing, research

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 Gharavi Laboratory,Columbia University, SCV000853846.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001945450.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

Support Center