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_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: May 26, 2021)
Last evaluated:
Mar 23, 2021
Accession:
VCV000242665.7
Variation ID:
242665
Description:
single nucleotide variant
Help

NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser)

Allele ID
70475
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q24.3
Genomic location
16: 88733731 (GRCh38) GRCh38 UCSC
16: 88800139 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.9:g.88800139C>T
NC_000016.10:g.88733731C>T
NM_001142864.4:c.2344G>A MANE Select NP_001136336.2:p.Gly782Ser missense
... more HGVS
Protein change
G782S
Other names
-
Canonical SPDI
NC_000016.10:88733730:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00551
1000 Genomes Project 0.00080
Exome Aggregation Consortium (ExAC) 0.00330
The Genome Aggregation Database (gnomAD), exomes 0.00381
Trans-Omics for Precision Medicine (TOPMed) 0.00385
Links
UniProtKB: Q92508#VAR_069823
OMIM: 611184.0008
dbSNP: rs200970763
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter May 28, 2019 RCV000989648.1
Uncertain significance 1 criteria provided, single submitter Sep 24, 2019 RCV001000047.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Mar 23, 2021 RCV000756474.5
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LOC100289580 - - - GRCh38 - 258
PIEZO1 - - GRCh38
GRCh37
402 721

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Lymphedema, hereditary, III
Allele origin: unknown
Mendelics
Accession: SCV001140179.1
Submitted: (Oct 22, 2019)
Evidence details
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001108108.2
Submitted: (Jan 29, 2020)
Evidence details
Uncertain significance
(Sep 24, 2019)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000884303.3
Submitted: (Dec 11, 2020)
Evidence details
Uncertain significance
(Mar 23, 2021)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001712881.1
Submitted: (May 26, 2021)
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 rs200970763...

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 Jun 14, 2021