NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val) AND Ehlers-Danlos syndrome

Germline classification:: Benign (1 submission)
Last evaluated:: May 1, 2020
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:: RCV002277300.10

Allele description [Variation Report for NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val)]

NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val)

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.4390A>G (p.Ile1464Val)

HGVS:

NC_000023.11:g.78046457A>G
NG_013224.2:g.140761A>G
NM_000052.7:c.4390A>GMANE SELECT
NM_001282224.2:c.4156A>G
NP_000043.4:p.Ile1464Val
NP_001269153.1:p.Ile1386Val
NC_000023.10:g.77301954A>G
NM_000052.4:c.4390A>G
NM_000052.6:c.4390A>G
NP_000043.3:p.Ile1464Val
NR_104109.2:n.1563A>G

Protein change:

I1386V

Links:

dbSNP: rs2234938

NCBI 1000 Genomes Browser:

rs2234938

Molecular consequence:

NM_000052.7:c.4390A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282224.2:c.4156A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_104109.2:n.1563A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Ehlers-Danlos syndrome (EDS)
Synonyms:: ED syndrome
Identifiers:: MONDO: MONDO:0020066; MedGen: C0013720; OMIM: PS130000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002565205	Genome Diagnostics Laboratory, The Hospital for Sick Children	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (May 1, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002565205

Genome Diagnostics Laboratory, The Hospital for Sick Children

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(May 1, 2020)

germline

clinical testing

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genome Diagnostics Laboratory, The Hospital for Sick Children, SCV002565205.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Nov 24, 2024

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