NM_000033.4(ABCD1):c.1489-6del AND not specified

Clinical significance:Benign (Last evaluated: Jul 7, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000077952.6

Allele description [Variation Report for NM_000033.4(ABCD1):c.1489-6del]

NM_000033.4(ABCD1):c.1489-6del

Gene:
ABCD1:ATP binding cassette subfamily D member 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000033.4(ABCD1):c.1489-6del
HGVS:
  • NC_000023.10:g.153005537del
  • NC_000023.11:g.153740086del
  • NG_009022.2:g.20219del
  • NM_000033.4:c.1489-6delMANE SELECT
  • LRG_1017t1:c.1489-6del
  • LRG_1017:g.20219del
  • NC_000023.10:g.153005537del
  • NC_000023.10:g.153005537delC
  • NC_000023.10:g.153005540del
  • NM_000033.3:c.1489-6del
  • NM_000033.3:c.1489-6delC
Links:
dbSNP: rs398123101
NCBI 1000 Genomes Browser:
rs398123101
Molecular consequence:
  • NM_000033.4:c.1489-6del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000109781EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Jun 3, 2013)
germlineclinical testing

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

Citation Link,

SCV000301578PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Benigngermlineclinical testing

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

SCV000612229Athena Diagnostics Inccriteria provided, single submitter
Benign
(Jul 7, 2017)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not 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

Mutational analyses of Taiwanese kindred with X-linked adrenoleukodystrophy.

Chiu HC, Liang JS, Wang JS, Lu JF.

Pediatr Neurol. 2006 Oct;35(4):250-6.

PubMed [citation]
PMID:
16996397
See all PubMed Citations (5)

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000109781.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From PreventionGenetics,PreventionGenetics, SCV000301578.1

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

From Athena Diagnostics Inc, SCV000612229.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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