NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr) AND not provided

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Jun 1, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000841465.10

Allele description [Variation Report for NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr)]

NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr)

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.3449T>C (p.Ile1150Thr)

HGVS:

NC_000023.11:g.78033759T>C
NG_013224.2:g.128063T>C
NM_000052.7:c.3449T>CMANE SELECT
NM_001282224.2:c.3215T>C
NP_000043.4:p.Ile1150Thr
NP_001269153.1:p.Ile1072Thr
NC_000023.10:g.77289257T>C
NM_000052.4:c.3449T>C
NM_000052.6:c.3449T>C
NR_104109.2:n.622T>C

Protein change:

I1072T

Links:

dbSNP: rs201225704

NCBI 1000 Genomes Browser:

rs201225704

Molecular consequence:

NM_000052.7:c.3449T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001282224.2:c.3215T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_104109.2:n.622T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000983433	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Oct 30, 2019)	germline	clinical testing	Citation Link,
SCV004165921	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Jun 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000983433

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Oct 30, 2019)

germline

clinical testing

Citation Link,

SCV004165921

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Jun 1, 2023)

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	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000983433.3

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

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV004165921.4

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

Description

ATP7A: BS2

#	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		1	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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