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

Clinical significance:Likely benign (Last evaluated: Dec 4, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001085214.3

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_000052.7:c.1955G>AMANE SELECT
  • NM_001282224.2:c.1955G>A
  • NP_000043.4:p.Arg652Gln
  • NP_000043.4:p.Arg652Gln
  • NP_001269153.1:p.Arg652Gln
  • NC_000023.10:g.77266954G>A
  • 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_001282224.2:c.1955G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Menkes kinky-hair syndrome (MNK)
Synonyms:
Steely hair disease; Menkea syndrome; Kinky hair disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010651; MedGen: C0022716; Orphanet: 565; OMIM: 309400
Name:
Cutis laxa, X-linked (OHS)
Synonyms:
EDS IX; Occipital horn syndrome; Ehlers-Danlos syndrome, occipital horn type (formerly); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010572; MedGen: C0268353; Orphanet: 198; OMIM: 304150
Name:
Distal spinal muscular atrophy, X-linked 3 (SMAX3)
Synonyms:
SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE
Identifiers:
MONDO: MONDO:0010338; MedGen: C1845359; Orphanet: 139557; OMIM: 300489

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000639968Invitaecriteria provided, single submitter
Likely benign
(Dec 4, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001457708Natera, Inc.no assertion criteria providedLikely benign
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000639968.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Natera, Inc., SCV001457708.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 24, 2021

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