NM_000052.6(ATP7A):c.1516A>G (p.Ile506Val) AND multiple conditions

Clinical significance:Benign (Last evaluated: Oct 22, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000534012.2

Allele description [Variation Report for NM_000052.6(ATP7A):c.1516A>G (p.Ile506Val)]

NM_000052.6(ATP7A):c.1516A>G (p.Ile506Val)

Gene:
ATP7A:ATPase copper transporting alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq21.1
Genomic location:
Preferred name:
NM_000052.6(ATP7A):c.1516A>G (p.Ile506Val)
HGVS:
  • NC_000023.11:g.77998657A>G
  • NG_013224.2:g.92961A>G
  • NM_000052.6:c.1516A>G
  • NP_000043.4:p.Ile506Val
  • NC_000023.10:g.77254154A>G
  • NM_000052.4:c.1516A>G
  • NR_104109.1:n.321+26896A>G
Protein change:
I506V
Links:
dbSNP: rs143907597
NCBI 1000 Genomes Browser:
rs143907597
Molecular consequence:
  • NR_104109.1:n.321+26896A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000052.6:c.1516A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Menkes kinky-hair syndrome (MK)
Identifiers:
MedGen: C0022716; Orphanet: 565; OMIM: 309400
Name:
Cutis laxa, X-linked (OHS)
Synonyms:
EDS IX
Identifiers:
MedGen: C0268353; Orphanet: 198; OMIM: 304150
Name:
Distal spinal muscular atrophy, X-linked 3 (SMAX3)
Synonyms:
SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE
Identifiers:
MedGen: C1845359; Orphanet: 139557; OMIM: 300489

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000639964Invitaecriteria provided, single submitter
Benign
(Oct 22, 2017)
germlineclinical testing

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

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.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000639964.2

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

Last Updated: Mar 30, 2019

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