Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_022089.4(ATP13A2):c.212G>A (p.Trp71Ter)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Oct 9, 2020)
Last evaluated:
Jan 2, 2018
Accession:
VCV000432661.3
Variation ID:
432661
Description:
single nucleotide variant
Help

NM_022089.4(ATP13A2):c.212G>A (p.Trp71Ter)

Allele ID
425322
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 17005450 (GRCh38) GRCh38 UCSC
1: 17331945 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.17331945C>T
NC_000001.11:g.17005450C>T
NM_022089.4:c.212G>A MANE Select NP_071372.1:p.Trp71Ter nonsense
... more HGVS
Protein change
W71*
Other names
-
Canonical SPDI
NC_000001.11:17005449:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA338264425
dbSNP: rs373607247
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jun 6, 2017 RCV000498095.1
Pathogenic 1 criteria provided, single submitter Jan 2, 2018 RCV001265808.1

Clinical features observed in individuals with this variant

Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ATP13A2 - - GRCh38
GRCh37
442 467

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 06, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000590414.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The W71X variant in the ATP13A2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This … (more)
Pathogenic
(Jan 02, 2018)
criteria provided, single submitter
Method: clinical testing
Inborn genetic diseases
Allele origin: germline
Ambry Genetics
Accession: SCV001443980.1
Submitted: (Oct 09, 2020)
Evidence details

Functional evidence

Help
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

Help
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 rs373607247...

Help
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 Feb 27, 2021