NM_000052.7(ATP7A):c.3862C>T (p.Gln1288Ter) AND Menkes kinky-hair syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 6, 2016
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003312858.1

Allele description [Variation Report for NM_000052.7(ATP7A):c.3862C>T (p.Gln1288Ter)]

NM_000052.7(ATP7A):c.3862C>T (p.Gln1288Ter)

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.3862C>T (p.Gln1288Ter)

HGVS:

NC_000023.11:g.78042645C>T
NG_013224.2:g.136949C>T
NM_000052.7:c.3862C>TMANE SELECT
NM_001282224.2:c.3628C>T
NP_000043.4:p.Gln1288Ter
NP_001269153.1:p.Gln1210Ter
NC_000023.10:g.77298143C>T
NM_000052.6:c.3862C>T
NR_104109.2:n.1035C>T

Protein change:

Q1210*

Molecular consequence:

NR_104109.2:n.1035C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000052.7:c.3862C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001282224.2:c.3628C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Menkes kinky-hair syndrome (MNK)
Synonyms:: Kinky hair disease; Copper transport disease; Menkes Disease
Identifiers:: MONDO: MONDO:0010651; MedGen: C0022716; Orphanet: 565; OMIM: 309400

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004011830	Inherited Neuropathy Consortium Ii, University Of Miami	no assertion criteria provided	Uncertain significance (Jan 6, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004011830

Inherited Neuropathy Consortium Ii, University Of Miami

no assertion criteria provided

Uncertain significance
(Jan 6, 2016)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Twenty-five novel mutations including duplications in the ATP7A gene.

Moizard MP, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, Mortemousque I, Marmin N, Dessay B, Danesino C, Feillet F, Castelnau P, Toutain A, Moraine C, Raynaud M.

Clin Genet. 2011 Mar;79(3):243-53. doi: 10.1111/j.1399-0004.2010.01461.x.

PubMed [citation]

PMID:: 21208200

Details of each submission

From Inherited Neuropathy Consortium Ii, University Of Miami, SCV004011830.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 16, 2023

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Relating variation to medicine