NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) AND History of neurodevelopmental disorder

Clinical significance:Likely benign (Last evaluated: Feb 13, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000718176.1

Allele description [Variation Report for NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln)]

NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln)

Gene:
ATP7A:ATPase copper transporting alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq21.1
Genomic location:
Preferred name:
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln)
HGVS:
  • NC_000023.11:g.78011457G>A
  • NG_013224.2:g.105761G>A
  • NM_000052.7:c.1955G>AMANE SELECT
  • NM_001282224.1:c.1955G>A
  • NP_000043.4:p.Arg652Gln
  • NP_001269153.1:p.Arg652Gln
  • NC_000023.10:g.77266954G>A
  • NM_000052.4:c.1955G>A
  • NM_000052.6:c.1955G>A
Protein change:
R652Q
Links:
dbSNP: rs143214563
NCBI 1000 Genomes Browser:
rs143214563
Molecular consequence:
  • NM_000052.7:c.1955G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282224.1:c.1955G>A - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000849038Ambry Geneticscriteria provided, single submitter
Likely benign
(Feb 13, 2017)
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, SCV000849038.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

In silico models in agreement (benign);Other strong data supporting benign classification

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

Last Updated: Oct 16, 2021

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