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NM_181882.3(PRX):c.4243G>A (p.Val1415Met) AND Dejerine-Sottas disease

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 8, 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:
RCV002291515.1

Allele description [Variation Report for NM_181882.3(PRX):c.4243G>A (p.Val1415Met)]

NM_181882.3(PRX):c.4243G>A (p.Val1415Met)

Gene:
PRX:periaxin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_181882.3(PRX):c.4243G>A (p.Val1415Met)
Other names:
p.Val1415Met
HGVS:
  • NC_000019.10:g.40394109C>T
  • NG_007979.1:g.24256G>A
  • NG_051224.1:g.1113G>A
  • NM_001411127.1:c.4528G>A
  • NM_020956.2:c.*4448G>A
  • NM_181882.3:c.4243G>AMANE SELECT
  • NP_001398056.1:p.Val1510Met
  • NP_870998.2:p.Val1415Met
  • NP_870998.2:p.Val1415Met
  • LRG_265t1:c.*4448G>A
  • LRG_265t2:c.4243G>A
  • LRG_265:g.24256G>A
  • LRG_265p2:p.Val1415Met
  • NC_000019.9:g.40900016C>T
  • NM_181882.2:c.4243G>A
Protein change:
V1415M
Links:
dbSNP: rs201222650
NCBI 1000 Genomes Browser:
rs201222650
Molecular consequence:
  • NM_020956.2:c.*4448G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001411127.1:c.4528G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181882.3:c.4243G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Unknown function
Observations:
1

Condition(s)

Name:
Dejerine-Sottas disease
Synonyms:
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE III; HMSN Type III; Hypertrophic neuropathy of Dejerine-Sottas; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007790; MedGen: C0011195; Orphanet: 64748; OMIM: 145900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002583553Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 8, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hindugermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics, SCV002583553.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Hindu1not providednot providedclinical testing PubMed (1)

Description

A heterozygous missense variation in exon 7 of the PRX gene that results in the amino acid substitution of Methionine for Valine at codon 1415 was detected. The observed variant c.4243G>A (p.Val1415Met) has not been reported in the 1000 genomes and has allele frequency of 0.0067% in gnomAD databases. The variant is estimated to be pathogenic according to DANN, CADD and FATHMM. According to the ACMG-A<P classification, the variant is classified as a VUS.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 16, 2024