NM_000053.4(ATP7B):c.1165C>G (p.Gln389Glu) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 28, 2023
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:: RCV004371982.1

Allele description [Variation Report for NM_000053.4(ATP7B):c.1165C>G (p.Gln389Glu)]

NM_000053.4(ATP7B):c.1165C>G (p.Gln389Glu)

Gene:

ATP7B:ATPase copper transporting beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.3

Genomic location:

Preferred name:

NM_000053.4(ATP7B):c.1165C>G (p.Gln389Glu)

HGVS:

NC_000013.11:g.51974055G>C
NG_008806.1:g.42440C>G
NM_000053.3:c.1165C>G
NM_000053.4:c.1165C>GMANE SELECT
NM_001005918.3:c.1165C>G
NM_001243182.2:c.832C>G
NM_001330578.2:c.1165C>G
NM_001330579.2:c.1165C>G
NM_001406511.1:c.1165C>G
NM_001406512.1:c.1165C>G
NM_001406513.1:c.1165C>G
NM_001406514.1:c.1165C>G
NM_001406515.1:c.1165C>G
NM_001406516.1:c.1165C>G
NM_001406517.1:c.1069C>G
NM_001406518.1:c.1069C>G
NM_001406519.1:c.1165C>G
NM_001406520.1:c.1165C>G
NM_001406521.1:c.1165C>G
NM_001406522.1:c.1165C>G
NM_001406523.1:c.1165C>G
NM_001406524.1:c.1165C>G
NM_001406525.1:c.1165C>G
NM_001406526.1:c.1165C>G
NM_001406527.1:c.1165C>G
NM_001406528.1:c.1165C>G
NM_001406530.1:c.1069C>G
NM_001406531.1:c.1165C>G
NM_001406532.1:c.1165C>G
NM_001406534.1:c.1165C>G
NM_001406535.1:c.1165C>G
NM_001406536.1:c.1069C>G
NM_001406537.1:c.1165C>G
NM_001406538.1:c.1165C>G
NM_001406539.1:c.736C>G
NM_001406540.1:c.1165C>G
NM_001406541.1:c.1165C>G
NM_001406542.1:c.1165C>G
NM_001406543.1:c.1069C>G
NM_001406544.1:c.1069C>G
NM_001406545.1:c.1165C>G
NM_001406546.1:c.1165C>G
NM_001406547.1:c.1165C>G
NM_001406548.1:c.1165C>G
NP_000044.2:p.Gln389Glu
NP_001005918.1:p.Gln389Glu
NP_001230111.1:p.Gln278Glu
NP_001317507.1:p.Gln389Glu
NP_001317508.1:p.Gln389Glu
NP_001393440.1:p.Gln389Glu
NP_001393441.1:p.Gln389Glu
NP_001393442.1:p.Gln389Glu
NP_001393443.1:p.Gln389Glu
NP_001393444.1:p.Gln389Glu
NP_001393445.1:p.Gln389Glu
NP_001393446.1:p.Gln357Glu
NP_001393447.1:p.Gln357Glu
NP_001393448.1:p.Gln389Glu
NP_001393449.1:p.Gln389Glu
NP_001393450.1:p.Gln389Glu
NP_001393451.1:p.Gln389Glu
NP_001393452.1:p.Gln389Glu
NP_001393453.1:p.Gln389Glu
NP_001393454.1:p.Gln389Glu
NP_001393455.1:p.Gln389Glu
NP_001393456.1:p.Gln389Glu
NP_001393457.1:p.Gln389Glu
NP_001393459.1:p.Gln357Glu
NP_001393460.1:p.Gln389Glu
NP_001393461.1:p.Gln389Glu
NP_001393463.1:p.Gln389Glu
NP_001393464.1:p.Gln389Glu
NP_001393465.1:p.Gln357Glu
NP_001393466.1:p.Gln389Glu
NP_001393467.1:p.Gln389Glu
NP_001393468.1:p.Gln246Glu
NP_001393469.1:p.Gln389Glu
NP_001393470.1:p.Gln389Glu
NP_001393471.1:p.Gln389Glu
NP_001393472.1:p.Gln357Glu
NP_001393473.1:p.Gln357Glu
NP_001393474.1:p.Gln389Glu
NP_001393475.1:p.Gln389Glu
NP_001393476.1:p.Gln389Glu
NP_001393477.1:p.Gln389Glu
NC_000013.10:g.52548191G>C

Protein change:

Q246E

Molecular consequence:

NM_000053.4:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001005918.3:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001243182.2:c.832C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330578.2:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330579.2:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406511.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406512.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406513.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406514.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406515.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406516.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406517.1:c.1069C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406518.1:c.1069C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406519.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406520.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406521.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406522.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406523.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406524.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406525.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406526.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406527.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406528.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406530.1:c.1069C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406531.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406532.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406534.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406535.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406536.1:c.1069C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406537.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406538.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406539.1:c.736C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406540.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406541.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406542.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406543.1:c.1069C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406544.1:c.1069C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406545.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406546.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406547.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406548.1:c.1165C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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galanin receptor 4 (1)
dbVar
Ighv1-64 immunoglobulin heavy variable 1-64 [Mus musculus]
Ighv1-64 immunoglobulin heavy variable 1-64 [Mus musculus]
Gene ID:380823

Gene
Ighv1-64 AND (alive[prop]) (1)
Gene
Landscape of Prostate-Specific Membrane Antigen Heterogeneity in Metastatic Pros...
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Landscape of Prostate-Specific Membrane Antigen Heterogeneity in Metastatic Prostate Cancer II

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004914049	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 28, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004914049

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 28, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004914049.1

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

Description

The c.1165C>G (p.Q389E) alteration is located in exon 2 (coding exon 2) of the ATP7B gene. This alteration results from a C to G substitution at nucleotide position 1165, causing the glutamine (Q) at amino acid position 389 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: May 7, 2024

ClinVar

Relating variation to medicine