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NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) AND History of neurodevelopmental disorder

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 10, 2013
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000721073.2

Allele description [Variation Report for NM_000052.7(ATP7A):c.2070A>G (p.Glu690=)]

NM_000052.7(ATP7A):c.2070A>G (p.Glu690=)

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.2070A>G (p.Glu690=)
HGVS:
  • NC_000023.11:g.78011572A>G
  • NG_013224.2:g.105876A>G
  • NM_000052.7:c.2070A>GMANE SELECT
  • NM_001282224.2:c.2070A>G
  • NP_000043.4:p.Glu690=
  • NP_001269153.1:p.Glu690=
  • NC_000023.10:g.77267069A>G
  • NM_000052.4:c.2070A>G
  • NM_000052.6:c.2070A>G
Links:
dbSNP: rs146692150
NCBI 1000 Genomes Browser:
rs146692150
Molecular consequence:
  • NM_000052.7:c.2070A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001282224.2:c.2070A>G - 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
SCV000851958Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))
Likely benign
(May 10, 2013)
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, SCV000851958.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024