NM_000053.4(ATP7B):c.1162C>G (p.Gln388Glu) AND Wilson disease

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 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:: RCV004016242.2

Allele description [Variation Report for NM_000053.4(ATP7B):c.1162C>G (p.Gln388Glu)]

NM_000053.4(ATP7B):c.1162C>G (p.Gln388Glu)

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.1162C>G (p.Gln388Glu)

HGVS:

NC_000013.11:g.51974058G>C
NG_008806.1:g.42437C>G
NM_000053.4:c.1162C>GMANE SELECT
NM_001005918.3:c.1162C>G
NM_001243182.2:c.829C>G
NM_001330578.2:c.1162C>G
NM_001330579.2:c.1162C>G
NM_001406511.1:c.1162C>G
NM_001406512.1:c.1162C>G
NM_001406513.1:c.1162C>G
NM_001406514.1:c.1162C>G
NM_001406515.1:c.1162C>G
NM_001406516.1:c.1162C>G
NM_001406517.1:c.1066C>G
NM_001406518.1:c.1066C>G
NM_001406519.1:c.1162C>G
NM_001406520.1:c.1162C>G
NM_001406521.1:c.1162C>G
NM_001406522.1:c.1162C>G
NM_001406523.1:c.1162C>G
NM_001406524.1:c.1162C>G
NM_001406525.1:c.1162C>G
NM_001406526.1:c.1162C>G
NM_001406527.1:c.1162C>G
NM_001406528.1:c.1162C>G
NM_001406530.1:c.1066C>G
NM_001406531.1:c.1162C>G
NM_001406532.1:c.1162C>G
NM_001406534.1:c.1162C>G
NM_001406535.1:c.1162C>G
NM_001406536.1:c.1066C>G
NM_001406537.1:c.1162C>G
NM_001406538.1:c.1162C>G
NM_001406539.1:c.733C>G
NM_001406540.1:c.1162C>G
NM_001406541.1:c.1162C>G
NM_001406542.1:c.1162C>G
NM_001406543.1:c.1066C>G
NM_001406544.1:c.1066C>G
NM_001406545.1:c.1162C>G
NM_001406546.1:c.1162C>G
NM_001406547.1:c.1162C>G
NM_001406548.1:c.1162C>G
NP_000044.2:p.Gln388Glu
NP_001005918.1:p.Gln388Glu
NP_001230111.1:p.Gln277Glu
NP_001317507.1:p.Gln388Glu
NP_001317508.1:p.Gln388Glu
NP_001393440.1:p.Gln388Glu
NP_001393441.1:p.Gln388Glu
NP_001393442.1:p.Gln388Glu
NP_001393443.1:p.Gln388Glu
NP_001393444.1:p.Gln388Glu
NP_001393445.1:p.Gln388Glu
NP_001393446.1:p.Gln356Glu
NP_001393447.1:p.Gln356Glu
NP_001393448.1:p.Gln388Glu
NP_001393449.1:p.Gln388Glu
NP_001393450.1:p.Gln388Glu
NP_001393451.1:p.Gln388Glu
NP_001393452.1:p.Gln388Glu
NP_001393453.1:p.Gln388Glu
NP_001393454.1:p.Gln388Glu
NP_001393455.1:p.Gln388Glu
NP_001393456.1:p.Gln388Glu
NP_001393457.1:p.Gln388Glu
NP_001393459.1:p.Gln356Glu
NP_001393460.1:p.Gln388Glu
NP_001393461.1:p.Gln388Glu
NP_001393463.1:p.Gln388Glu
NP_001393464.1:p.Gln388Glu
NP_001393465.1:p.Gln356Glu
NP_001393466.1:p.Gln388Glu
NP_001393467.1:p.Gln388Glu
NP_001393468.1:p.Gln245Glu
NP_001393469.1:p.Gln388Glu
NP_001393470.1:p.Gln388Glu
NP_001393471.1:p.Gln388Glu
NP_001393472.1:p.Gln356Glu
NP_001393473.1:p.Gln356Glu
NP_001393474.1:p.Gln388Glu
NP_001393475.1:p.Gln388Glu
NP_001393476.1:p.Gln388Glu
NP_001393477.1:p.Gln388Glu
NC_000013.10:g.52548194G>C

Protein change:

Q245E

Molecular consequence:

NM_000053.4:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001005918.3:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001243182.2:c.829C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330578.2:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330579.2:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406511.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406512.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406513.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406514.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406515.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406516.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406517.1:c.1066C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406518.1:c.1066C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406519.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406520.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406521.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406522.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406523.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406524.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406525.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406526.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406527.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406528.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406530.1:c.1066C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406531.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406532.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406534.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406535.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406536.1:c.1066C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406537.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406538.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406539.1:c.733C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406540.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406541.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406542.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406543.1:c.1066C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406544.1:c.1066C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406545.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406546.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406547.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406548.1:c.1162C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Wilson disease (WND)
Synonyms:: Wilson's disease; Hepatolenticular degeneration
Identifiers:: MONDO: MONDO:0010200; MedGen: C0019202; Orphanet: 905; OMIM: 277900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004830731	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain Significance (Jun 28, 2023)	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

SCV004830731

All of Us Research Program, National Institutes of Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain Significance
(Jun 28, 2023)

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	1	not provided	not provided	108544	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 All of Us Research Program, National Institutes of Health, SCV004830731.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	108544	not provided	not provided		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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