NM_000052.7(ATP7A):c.3613G>C (p.Glu1205Gln) AND History of neurodevelopmental disorder

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Germline classification:: Benign (1 submission)
Last evaluated:: Feb 10, 2017
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:: RCV000720936.1

Allele description

NM_000052.7(ATP7A):c.3613G>C (p.Glu1205Gln)

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.3613G>C (p.Glu1205Gln)

HGVS:

NC_000023.11:g.78038937G>C
NG_013224.2:g.133241G>C
NM_000052.7:c.3613G>CMANE SELECT
NM_001282224.2:c.3379G>C
NP_000043.4:p.Glu1205Gln
NP_001269153.1:p.Glu1127Gln
NC_000023.10:g.77294435G>C
NM_000052.4:c.3613G>C
NM_000052.6:c.3613G>C
NR_104109.2:n.786G>C

Protein change:

E1127Q

Links:

dbSNP: rs782349186

NCBI 1000 Genomes Browser:

rs782349186

Molecular consequence:

NM_000052.7:c.3613G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001282224.2:c.3379G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_104109.2:n.786G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: History of neurodevelopmental disorder
Identifiers:: MedGen: C2711754

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000851820	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (10/2015))	Benign (Feb 10, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000851820

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))

Benign
(Feb 10, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000851820.3

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

Description

General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign) ;Structural Evidence

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

Last Updated: Aug 23, 2022

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