NM_000053.4(ATP7B):c.2621C>G (p.Ala874Gly) AND Wilson disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 26, 2024
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:: RCV003990492.2

Allele description [Variation Report for NM_000053.4(ATP7B):c.2621C>G (p.Ala874Gly)]

NM_000053.4(ATP7B):c.2621C>G (p.Ala874Gly)

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.2621C>G (p.Ala874Gly)

HGVS:

NC_000013.11:g.51950116G>C
NG_008806.1:g.66379C>G
NM_000053.4:c.2621C>GMANE SELECT
NM_001005918.3:c.2135C>G
NM_001243182.2:c.2288C>G
NM_001330578.2:c.2387C>G
NM_001330579.2:c.2369C>G
NM_001406511.1:c.2621C>G
NM_001406512.1:c.2621C>G
NM_001406513.1:c.2621C>G
NM_001406514.1:c.2588C>G
NM_001406515.1:c.2621C>G
NM_001406516.1:c.2621C>G
NM_001406517.1:c.2525C>G
NM_001406518.1:c.2525C>G
NM_001406519.1:c.2621C>G
NM_001406520.1:c.2477C>G
NM_001406521.1:c.2477C>G
NM_001406522.1:c.2477C>G
NM_001406523.1:c.2621C>G
NM_001406524.1:c.2444C>G
NM_001406525.1:c.2621C>G
NM_001406526.1:c.2621C>G
NM_001406527.1:c.2387C>G
NM_001406528.1:c.2387C>G
NM_001406530.1:c.2381C>G
NM_001406531.1:c.2369C>G
NM_001406532.1:c.2369C>G
NM_001406534.1:c.2387C>G
NM_001406535.1:c.2621C>G
NM_001406536.1:c.2291C>G
NM_001406537.1:c.2477C>G
NM_001406538.1:c.2387C>G
NM_001406539.1:c.2192C>G
NM_001406540.1:c.2369C>G
NM_001406541.1:c.2135C>G
NM_001406542.1:c.2135C>G
NM_001406543.1:c.2273C>G
NM_001406544.1:c.2039C>G
NM_001406545.1:c.1973C>G
NM_001406546.1:c.2135C>G
NM_001406547.1:c.1973C>G
NM_001406548.1:c.1331C>G
NP_000044.2:p.Ala874Gly
NP_001005918.1:p.Ala712Gly
NP_001230111.1:p.Ala763Gly
NP_001317507.1:p.Ala796Gly
NP_001317508.1:p.Ala790Gly
NP_001393440.1:p.Ala874Gly
NP_001393441.1:p.Ala874Gly
NP_001393442.1:p.Ala874Gly
NP_001393443.1:p.Ala863Gly
NP_001393444.1:p.Ala874Gly
NP_001393445.1:p.Ala874Gly
NP_001393446.1:p.Ala842Gly
NP_001393447.1:p.Ala842Gly
NP_001393448.1:p.Ala874Gly
NP_001393449.1:p.Ala826Gly
NP_001393450.1:p.Ala826Gly
NP_001393451.1:p.Ala826Gly
NP_001393452.1:p.Ala874Gly
NP_001393453.1:p.Ala815Gly
NP_001393454.1:p.Ala874Gly
NP_001393455.1:p.Ala874Gly
NP_001393456.1:p.Ala796Gly
NP_001393457.1:p.Ala796Gly
NP_001393459.1:p.Ala794Gly
NP_001393460.1:p.Ala790Gly
NP_001393461.1:p.Ala790Gly
NP_001393463.1:p.Ala796Gly
NP_001393464.1:p.Ala874Gly
NP_001393465.1:p.Ala764Gly
NP_001393466.1:p.Ala826Gly
NP_001393467.1:p.Ala796Gly
NP_001393468.1:p.Ala731Gly
NP_001393469.1:p.Ala790Gly
NP_001393470.1:p.Ala712Gly
NP_001393471.1:p.Ala712Gly
NP_001393472.1:p.Ala758Gly
NP_001393473.1:p.Ala680Gly
NP_001393474.1:p.Ala658Gly
NP_001393475.1:p.Ala712Gly
NP_001393476.1:p.Ala658Gly
NP_001393477.1:p.Ala444Gly
NC_000013.10:g.52524252G>C

Protein change:

A444G

Molecular consequence:

NM_000053.4:c.2621C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001005918.3:c.2135C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001243182.2:c.2288C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330578.2:c.2387C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330579.2:c.2369C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406511.1:c.2621C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406512.1:c.2621C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406513.1:c.2621C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406514.1:c.2588C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406515.1:c.2621C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406516.1:c.2621C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406517.1:c.2525C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406518.1:c.2525C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406519.1:c.2621C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406520.1:c.2477C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406521.1:c.2477C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406522.1:c.2477C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406523.1:c.2621C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406524.1:c.2444C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406525.1:c.2621C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406526.1:c.2621C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406527.1:c.2387C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406528.1:c.2387C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406530.1:c.2381C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406531.1:c.2369C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406532.1:c.2369C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406534.1:c.2387C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406535.1:c.2621C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406536.1:c.2291C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406537.1:c.2477C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406538.1:c.2387C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406539.1:c.2192C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406540.1:c.2369C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406541.1:c.2135C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406542.1:c.2135C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406543.1:c.2273C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406544.1:c.2039C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406545.1:c.1973C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406546.1:c.2135C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406547.1:c.1973C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406548.1:c.1331C>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004807174	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 26, 2024)	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

SCV004807174

Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 26, 2024)

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 Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004807174.1

#	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: Aug 4, 2024

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Relating variation to medicine