NM_000033.4(ABCD1):c.696G>T (p.Ala232=) AND History of neurodevelopmental disorder

Clinical significance:Benign (Last evaluated: Nov 12, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000717873.2

Allele description [Variation Report for NM_000033.4(ABCD1):c.696G>T (p.Ala232=)]

NM_000033.4(ABCD1):c.696G>T (p.Ala232=)

Gene:
ABCD1:ATP binding cassette subfamily D member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000033.4(ABCD1):c.696G>T (p.Ala232=)
HGVS:
  • NC_000023.11:g.153725962G>T
  • NG_009022.2:g.6095G>T
  • NG_023231.1:g.3785C>A
  • NM_000033.4:c.696G>TMANE SELECT
  • NP_000024.2:p.Ala232=
  • LRG_1017t1:c.696G>T
  • LRG_1017:g.6095G>T
  • LRG_1017p1:p.Ala232=
  • NC_000023.10:g.152991417G>T
  • NM_000033.3:c.696G>T
Links:
dbSNP: rs147595334
NCBI 1000 Genomes Browser:
rs147595334
Molecular consequence:
  • NM_000033.4:c.696G>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
History of neurodevelopmental disorder
Identifiers:
MedGen: C2711754

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000848733Ambry Geneticscriteria provided, single submitter
Benign
(Nov 12, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000848733.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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