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NM_152296.5(ATP1A3):c.147T>C (p.Cys49=) AND Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 5, 2021
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:
RCV002259892.1

Allele description [Variation Report for NM_152296.5(ATP1A3):c.147T>C (p.Cys49=)]

NM_152296.5(ATP1A3):c.147T>C (p.Cys49=)

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.147T>C (p.Cys49=)
HGVS:
  • NC_000019.10:g.41988324A>G
  • NG_008015.1:g.10907T>C
  • NM_001256213.2:c.180T>C
  • NM_001256214.2:c.186T>C
  • NM_152296.5:c.147T>CMANE SELECT
  • NP_001243142.1:p.Cys60=
  • NP_001243143.1:p.Cys62=
  • NP_689509.1:p.Cys49=
  • LRG_1186t1:c.147T>C
  • LRG_1186:g.10907T>C
  • LRG_1186p1:p.Cys49=
  • NC_000019.9:g.42492476A>G
  • NM_152296.4:c.147T>C
Links:
dbSNP: rs376960579
NCBI 1000 Genomes Browser:
rs376960579
Molecular consequence:
  • NM_001256213.2:c.180T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001256214.2:c.186T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_152296.5:c.147T>C - synonymous variant - [Sequence Ontology: SO:0001819]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002539104Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Dec 5, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV002539104.1

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

Last Updated: Oct 20, 2024