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NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 21, 2022
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:
RCV002223947.1

Allele description [Variation Report for NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu)]

NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu)

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.2300C>T (p.Pro767Leu)
HGVS:
  • NC_000013.11:g.51958366G>A
  • NG_008806.1:g.58129C>T
  • NM_000053.4:c.2300C>TMANE SELECT
  • NM_001005918.3:c.1870-759C>T
  • NM_001243182.2:c.1967C>T
  • NM_001330578.2:c.2122-759C>T
  • NM_001330579.2:c.2048C>T
  • NP_000044.2:p.Pro767Leu
  • NP_001230111.1:p.Pro656Leu
  • NP_001317508.1:p.Pro683Leu
  • NC_000013.10:g.52532502G>A
  • NM_000053.3:c.2300C>T
Protein change:
P656L
Links:
dbSNP: rs776668666
NCBI 1000 Genomes Browser:
rs776668666
Molecular consequence:
  • NM_001005918.3:c.1870-759C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330578.2:c.2122-759C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000053.4:c.2300C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243182.2:c.1967C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330579.2:c.2048C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002502271AiLife Diagnostics, AiLife Diagnostics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 21, 2022) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Most frequent mutation c.3402delC (p.Ala1135GlnfsX13) among Wilson disease patients in Venezuela has a wide distribution and two old origins.

Paradisi I, De Freitas L, Arias S.

Eur J Med Genet. 2015 Feb;58(2):59-65. doi: 10.1016/j.ejmg.2014.12.007. Epub 2014 Dec 12.

PubMed [citation]
PMID:
25497208

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 AiLife Diagnostics, AiLife Diagnostics, SCV002502271.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024