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NM_000052.7(ATP7A):c.3632G>A (p.Arg1211Gln) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 29, 2016
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:
RCV002318876.9

Allele description [Variation Report for NM_000052.7(ATP7A):c.3632G>A (p.Arg1211Gln)]

NM_000052.7(ATP7A):c.3632G>A (p.Arg1211Gln)

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.3632G>A (p.Arg1211Gln)
HGVS:
  • NC_000023.11:g.78038956G>A
  • NG_013224.2:g.133260G>A
  • NM_000052.7:c.3632G>AMANE SELECT
  • NM_001282224.2:c.3398G>A
  • NP_000043.4:p.Arg1211Gln
  • NP_001269153.1:p.Arg1133Gln
  • NC_000023.10:g.77294454G>A
  • NM_000052.4:c.3632G>A
  • NR_104109.2:n.805G>A
Protein change:
R1133Q
Links:
dbSNP: rs782166627
NCBI 1000 Genomes Browser:
rs782166627
Molecular consequence:
  • NM_000052.7:c.3632G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282224.2:c.3398G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104109.2:n.805G>A - 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
SCV000851904Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Sep 29, 2016)
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, SCV000851904.5

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

Description

The p.R1211Q variant (also known as c.3632G>A), located in coding exon 17 of the ATP7A gene, results from a G to A substitution at nucleotide position 3632. The arginine at codon 1211 is replaced by glutamine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples with coverage at this position. This amino acid position is highly conserved through mammals but not in all available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Jul 15, 2024