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NM_000702.4(ATP1A2):c.1415A>G (p.Asn472Ser)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 25, 2021)
Last evaluated:
Oct 26, 2020
Accession:
VCV000204887.6
Variation ID:
204887
Description:
single nucleotide variant
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NM_000702.4(ATP1A2):c.1415A>G (p.Asn472Ser)

Allele ID
201083
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q23.2
Genomic location
1: 160129354 (GRCh38) GRCh38 UCSC
1: 160099144 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.160099144A>G
NC_000001.11:g.160129354A>G
NG_008014.1:g.18597A>G
... more HGVS
Protein change
N472S
Other names
p.N472S:AAC>AGC
Canonical SPDI
NC_000001.11:160129353:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00100 (G)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00010
Exome Aggregation Consortium (ExAC) 0.00017
The Genome Aggregation Database (gnomAD), exomes 0.00018
The Genome Aggregation Database (gnomAD) 0.00029
1000 Genomes Project 0.00100
Links
ClinGen: CA313280
dbSNP: rs529607288
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jul 10, 2020 RCV000186789.6
Likely benign 1 criteria provided, single submitter Oct 26, 2020 RCV001088356.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ATP1A2 - - GRCh38
GRCh37
690 706

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jul 10, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000240358.12
Submitted: (Sep 25, 2021)
Evidence details
Comment:
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Likely benign
(Oct 26, 2020)
criteria provided, single submitter
Method: clinical testing
Familial hemiplegic migraine
Allele origin: germline
Invitae
Accession: SCV001002824.3
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs529607288...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021