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NM_000052.7(ATP7A):c.4448A>C (p.Asp1483Ala) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 24, 2017
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:
RCV002314494.9

Allele description [Variation Report for NM_000052.7(ATP7A):c.4448A>C (p.Asp1483Ala)]

NM_000052.7(ATP7A):c.4448A>C (p.Asp1483Ala)

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.4448A>C (p.Asp1483Ala)
HGVS:
  • NC_000023.11:g.78046515A>C
  • NG_013224.2:g.140819A>C
  • NM_000052.7:c.4448A>CMANE SELECT
  • NM_001282224.2:c.4214A>C
  • NP_000043.4:p.Asp1483Ala
  • NP_001269153.1:p.Asp1405Ala
  • NC_000023.10:g.77302012A>C
  • NM_000052.4:c.4448A>C
  • NR_104109.2:n.1621A>C
Protein change:
D1405A
Links:
dbSNP: rs782799150
NCBI 1000 Genomes Browser:
rs782799150
Molecular consequence:
  • NM_000052.7:c.4448A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282224.2:c.4214A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104109.2:n.1621A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000848174Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Feb 24, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV000848174.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.D1483A variant (also known as c.4448A>C), located in coding exon 22 of the ATP7A gene, results from an A to C substitution at nucleotide position 4448. The aspartic acid at codon 1483 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024