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NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 18, 2017
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:
RCV000515424.10

Allele description [Variation Report for NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)]

NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)

Gene:
ATP1A3:ATPase Na+/K+ transporting subunit alpha 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
Other names:
NM_001256213.1(ATP1A3):c.2434G>A(p.Asp812Asn); NM_001256214.1(ATP1A3):c.2440G>A(p.Asp814Asn); NM_152296.4(ATP1A3):c.2401G>A(p.Asp801Asn)
HGVS:
  • NC_000019.10:g.41970405C>T
  • NG_008015.1:g.28826G>A
  • NM_001256213.2:c.2434G>A
  • NM_001256214.2:c.2440G>A
  • NM_152296.5:c.2401G>AMANE SELECT
  • NP_001243142.1:p.Asp812Asn
  • NP_001243143.1:p.Asp814Asn
  • NP_689509.1:p.Asp801Asn
  • NP_689509.1:p.Asp801Asn
  • LRG_1186t1:c.2401G>A
  • LRG_1186:g.28826G>A
  • LRG_1186p1:p.Asp801Asn
  • NC_000019.9:g.42474557C>T
  • NM_001256214.1:c.2440G>A
  • NM_001256214.2:c.2440G>A
  • NM_152296.3:c.2401G>A
  • NM_152296.4:c.2401G>A
  • P13637:p.Asp801Asn
Protein change:
D801N; ASP801ASN
Links:
UniProtKB: P13637#VAR_068943; OMIM: 182350.0009
Molecular consequence:
  • NM_001256213.2:c.2434G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256214.2:c.2440G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152296.5:c.2401G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome (CAPOS)
Synonyms:
CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS; Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss; CAPOS syndrome
Identifiers:
MONDO: MONDO:0011038; MedGen: C1832466; Orphanet: 1171; OMIM: 601338
Name:
Dystonia 12 (DYT12)
Synonyms:
DYT-ATP1A3; Rapid-Onset Dystonia-Parkinsonism
Identifiers:
MONDO: MONDO:0007496; MedGen: C1868681; Orphanet: 71517; OMIM: 128235
Name:
Alternating hemiplegia of childhood 2 (AHC2)
Identifiers:
MONDO: MONDO:0013900; MedGen: C3553788; Orphanet: 2131; OMIM: 614820

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000611249Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 18, 2017) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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 Fulgent Genetics, Fulgent Genetics, SCV000611249.1

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

Last Updated: Nov 30, 2024