U.S. flag

An official website of the United States government

NM_152296.5(ATP1A3):c.2946C>T (p.Phe982=) AND ATP1A3-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 23, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004550147.2

Allele description [Variation Report for NM_152296.5(ATP1A3):c.2946C>T (p.Phe982=)]

NM_152296.5(ATP1A3):c.2946C>T (p.Phe982=)

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.2946C>T (p.Phe982=)
HGVS:
  • NC_000019.10:g.41967316G>A
  • NG_008015.1:g.31915C>T
  • NM_001256213.2:c.2979C>T
  • NM_001256214.1:c.2985C>T
  • NM_001256214.2:c.2985C>T
  • NM_152296.5:c.2946C>TMANE SELECT
  • NP_001243142.1:p.Phe993=
  • NP_001243143.1:p.Phe995=
  • NP_689509.1:p.Phe982=
  • LRG_1186t1:c.2946C>T
  • LRG_1186:g.31915C>T
  • LRG_1186p1:p.Phe982=
  • NC_000019.9:g.42471468G>A
Links:
dbSNP: rs182309368
NCBI 1000 Genomes Browser:
rs182309368
Molecular consequence:
  • NM_001256213.2:c.2979C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001256214.2:c.2985C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_152296.5:c.2946C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
ATP1A3-related disorder
Synonyms:
ATP1A3-Related Disorders; ATP1A3-related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004760273PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Jan 23, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004760273.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The ATP1A3 c.2985C>T variant is not predicted to result in an amino acid change (p.=). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0063% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-42471468-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Nov 3, 2024