NM_181882.3(PRX):c.133C>G (p.Arg45Gly) AND not specified

Germline classification:: Benign (3 submissions)
Last evaluated:: Feb 25, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000391732.10

Allele description [Variation Report for NM_181882.3(PRX):c.133C>G (p.Arg45Gly)]

NM_181882.3(PRX):c.133C>G (p.Arg45Gly)

Genes:

LOC130064454:ATAC-STARR-seq lymphoblastoid active region 14650 [Gene]
PRX:periaxin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_181882.3(PRX):c.133C>G (p.Arg45Gly)

HGVS:

NC_000019.10:g.40403757G>C
NG_007979.1:g.14608C>G
NM_020956.2:c.133C>G
NM_181882.3:c.133C>GMANE SELECT
NP_066007.1:p.Arg45Gly
NP_870998.2:p.Arg45Gly
NP_870998.2:p.Arg45Gly
LRG_265t1:c.133C>G
LRG_265t2:c.133C>G
LRG_265:g.14608C>G
LRG_265p1:p.Arg45Gly
LRG_265p2:p.Arg45Gly
NC_000019.9:g.40909664G>C
NM_181882.2:c.133C>G

Protein change:

R45G

Links:

dbSNP: rs115090201

NCBI 1000 Genomes Browser:

rs115090201

Molecular consequence:

NM_020956.2:c.133C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_181882.3:c.133C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000337356	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Nov 19, 2015)	germline	clinical testing	Citation Link,
SCV001880765	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics criteria)	Benign (Feb 25, 2021)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25164601, 26467025
SCV001976231	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000337356

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Nov 19, 2015)

germline

clinical testing

Citation Link,

SCV001880765

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics criteria)

Benign
(Feb 25, 2021)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV001976231

Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Benign

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sequencing of Charcot-Marie-Tooth disease genes in a toxic polyneuropathy.

Beutler AS, Kulkarni AA, Kanwar R, Klein CJ, Therneau TM, Qin R, Banck MS, Boora GK, Ruddy KJ, Wu Y, Smalley RL, Cunningham JM, Le-Lindqwister NA, Beyerlein P, Schroth GP, Windebank AJ, Züchner S, Loprinzi CL.

Ann Neurol. 2014 Nov;76(5):727-37. doi: 10.1002/ana.24265. Epub 2014 Sep 17.

PubMed [citation]

PMID:: 25164601
PMCID:: PMC4388308

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Eurofins Ntd Llc (ga), SCV000337356.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

From Athena Diagnostics, SCV001880765.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001976231.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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