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NM_181882.3(PRX):c.2043C>T (p.Pro681=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 28, 2020
Accession:
VCV000289454.5
Variation ID:
289454
Description:
single nucleotide variant
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NM_181882.3(PRX):c.2043C>T (p.Pro681=)

Allele ID
273691
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.2
Genomic location
19: 40396309 (GRCh38) GRCh38 UCSC
19: 40902216 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.9:g.40902216G>A
NC_000019.10:g.40396309G>A
NG_007979.1:g.22056C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:40396308:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00319 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00261
1000 Genomes Project 0.00319
Exome Aggregation Consortium (ExAC) 0.00075
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00208
The Genome Aggregation Database (gnomAD), exomes 0.00063
Trans-Omics for Precision Medicine (TOPMed) 0.00257
Trans-Omics for Precision Medicine (TOPMed) 0.00253
The Genome Aggregation Database (gnomAD) 0.00259
Links
ClinGen: CA9444132
dbSNP: rs56743160
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Oct 5, 2017 RCV000286932.4
Benign 1 criteria provided, single submitter Nov 28, 2020 RCV000470157.6
Likely benign 1 criteria provided, single submitter - RCV001173095.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PRX - - GRCh38
GRCh37
848 861

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Oct 05, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000527694.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Aug 26, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000343823.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Nov 28, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease type 4
Allele origin: germline
Invitae
Accession: SCV000561600.6
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001336171.1
Submitted: (Apr 07, 2020)
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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=PRX - - - -

Text-mined citations for rs56743160...

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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 Dec 04, 2021