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NM_181882.3(PRX):c.1951G>A (p.Asp651Asn) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 13, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002415441.2

Allele description [Variation Report for NM_181882.3(PRX):c.1951G>A (p.Asp651Asn)]

NM_181882.3(PRX):c.1951G>A (p.Asp651Asn)

Gene:
PRX:periaxin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_181882.3(PRX):c.1951G>A (p.Asp651Asn)
HGVS:
  • NC_000019.10:g.40396401C>T
  • NG_007979.1:g.21964G>A
  • NM_020956.2:c.*2156G>A
  • NM_181882.3:c.1951G>AMANE SELECT
  • NP_870998.2:p.Asp651Asn
  • NP_870998.2:p.Asp651Asn
  • LRG_265t1:c.*2156G>A
  • LRG_265t2:c.1951G>A
  • LRG_265:g.21964G>A
  • LRG_265p2:p.Asp651Asn
  • NC_000019.9:g.40902308C>T
  • NM_181882.2:c.1951G>A
  • Q9BXM0:p.Asp651Asn
Protein change:
D651N; ASP651ASN
Links:
UniProtKB: Q9BXM0#VAR_069093; UniProtKB/Swiss-Prot: VAR_069093; OMIM: 605725.0011; dbSNP: rs3814290
NCBI 1000 Genomes Browser:
rs3814290
Molecular consequence:
  • NM_020956.2:c.*2156G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_181882.3:c.1951G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002718064Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 13, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.

Tokunaga S, Hashiguchi A, Yoshimura A, Maeda K, Suzuki T, Haruki H, Nakamura T, Okamoto Y, Takashima H.

Neurogenetics. 2012 Nov;13(4):359-65. doi: 10.1007/s10048-012-0338-5. Epub 2012 Aug 1.

PubMed [citation]
PMID:
22847150

Details of each submission

From Ambry Genetics, SCV002718064.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.D651N variant (also known as c.1951G>A), located in coding exon 4 of the PRX gene, results from a G to A substitution at nucleotide position 1951. The aspartic acid at codon 651 is replaced by asparagine, an amino acid with highly similar properties. This variant was detected in the homozygous state in an individual with slowly progressive neuropathy (Tokunaga S et al. Neurogenetics, 2012 Nov;13:359-65). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024