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NM_152296.5(ATP1A3):c.1714A>G (p.Asn572Asp) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 3, 2024
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:
RCV004021751.1

Allele description [Variation Report for NM_152296.5(ATP1A3):c.1714A>G (p.Asn572Asp)]

NM_152296.5(ATP1A3):c.1714A>G (p.Asn572Asp)

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.1714A>G (p.Asn572Asp)
HGVS:
  • NC_000019.10:g.41978243T>C
  • NG_008015.1:g.20988A>G
  • NM_001256213.2:c.1747A>G
  • NM_001256214.2:c.1753A>G
  • NM_152296.3:c.1714A>G
  • NM_152296.5:c.1714A>GMANE SELECT
  • NP_001243142.1:p.Asn583Asp
  • NP_001243143.1:p.Asn585Asp
  • NP_689509.1:p.Asn572Asp
  • LRG_1186t1:c.1714A>G
  • LRG_1186:g.20988A>G
  • LRG_1186p1:p.Asn572Asp
  • NC_000019.9:g.42482395T>C
  • NM_152296.4:c.1714A>G
Protein change:
N572D
Links:
dbSNP: rs782415633
NCBI 1000 Genomes Browser:
rs782415633
Molecular consequence:
  • NM_001256213.2:c.1747A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256214.2:c.1753A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152296.5:c.1714A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004913942Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 3, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004913942.1

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024