NM_152296.5(ATP1A3):c.1715A>G (p.Asn572Ser) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 30, 2020
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:: RCV001752843.2

Allele description [Variation Report for NM_152296.5(ATP1A3):c.1715A>G (p.Asn572Ser)]

NM_152296.5(ATP1A3):c.1715A>G (p.Asn572Ser)

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.1715A>G (p.Asn572Ser)

HGVS:

NC_000019.10:g.41978242T>C
NG_008015.1:g.20989A>G
NM_001256213.2:c.1748A>G
NM_001256214.2:c.1754A>G
NM_152296.5:c.1715A>GMANE SELECT
NP_001243142.1:p.Asn583Ser
NP_001243143.1:p.Asn585Ser
NP_689509.1:p.Asn572Ser
LRG_1186t1:c.1715A>G
LRG_1186:g.20989A>G
LRG_1186p1:p.Asn572Ser
NC_000019.9:g.42482394T>C
NM_152296.4:c.1715A>G

Protein change:

N572S

Links:

dbSNP: rs2145964972

NCBI 1000 Genomes Browser:

rs2145964972

Molecular consequence:

NM_001256213.2:c.1748A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001256214.2:c.1754A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_152296.5:c.1715A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001995750	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jan 30, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001995750

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jan 30, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001995750.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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