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NM_000053.4(ATP7B):c.2251G>T (p.Ala751Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 15, 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:
RCV003155276.1

Allele description [Variation Report for NM_000053.4(ATP7B):c.2251G>T (p.Ala751Ser)]

NM_000053.4(ATP7B):c.2251G>T (p.Ala751Ser)

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.2251G>T (p.Ala751Ser)
HGVS:
  • NC_000013.11:g.51958415C>A
  • NG_008806.1:g.58080G>T
  • NM_000053.4:c.2251G>TMANE SELECT
  • NM_001005918.3:c.1870-808G>T
  • NM_001243182.2:c.1918G>T
  • NM_001330578.2:c.2122-808G>T
  • NM_001330579.2:c.1999G>T
  • NP_000044.2:p.Ala751Ser
  • NP_001230111.1:p.Ala640Ser
  • NP_001317508.1:p.Ala667Ser
  • NC_000013.10:g.52532551C>A
  • NM_000053.3:c.2251G>T
Protein change:
A640S
Links:
dbSNP: rs1555291181
NCBI 1000 Genomes Browser:
rs1555291181
Molecular consequence:
  • NM_001005918.3:c.1870-808G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330578.2:c.2122-808G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000053.4:c.2251G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243182.2:c.1918G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330579.2:c.1999G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003844740Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Feb 15, 2023) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.

Dong Y, Ni W, Chen WJ, Wan B, Zhao GX, Shi ZQ, Zhang Y, Wang N, Yu L, Xu JF, Wu ZY.

Theranostics. 2016;6(5):638-49. doi: 10.7150/thno.14596.

PubMed [citation]
PMID:
27022412
PMCID:
PMC4805659

Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.

Li M, Ma J, Wang W, Yang X, Luo K.

BMC Gastroenterol. 2021 Sep 1;21(1):339. doi: 10.1186/s12876-021-01911-5.

PubMed [citation]
PMID:
34470610
PMCID:
PMC8411542

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003844740.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: ATP7B c.2251G>T (p.Ala751Ser) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 249584 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.2251G>T has been reported in the literature in individuals affected with Wilson Disease with non informative genotypes (example:Dong_2016 and Li_2021). These report(s) do not provide unequivocal conclusions about association of the variant with Wilson Disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 1, 2023