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NM_000311.5(PRNP):c.143G>A (p.Arg48His) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 9, 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:
RCV001811670.13

Allele description [Variation Report for NM_000311.5(PRNP):c.143G>A (p.Arg48His)]

NM_000311.5(PRNP):c.143G>A (p.Arg48His)

Gene:
PRNP:prion protein (Kanno blood group) [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p13
Genomic location:
Preferred name:
NM_000311.5(PRNP):c.143G>A (p.Arg48His)
HGVS:
  • NC_000020.11:g.4699363G>A
  • NG_009087.1:g.18213G>A
  • NM_000311.5:c.143G>AMANE SELECT
  • NM_001080121.3:c.143G>A
  • NM_001080122.3:c.143G>A
  • NM_001080123.3:c.143G>A
  • NM_001271561.3:c.54G>A
  • NM_183079.4:c.143G>A
  • NP_000302.1:p.Arg48His
  • NP_001073590.1:p.Arg48His
  • NP_001073591.1:p.Arg48His
  • NP_001073592.1:p.Arg48His
  • NP_001258490.1:p.Pro18=
  • NP_898902.1:p.Arg48His
  • NC_000020.10:g.4680009G>A
  • NC_000020.10:g.4680009G>A
  • NM_000311.3:c.143G>A
Protein change:
R48H
Links:
dbSNP: rs945136467
NCBI 1000 Genomes Browser:
rs945136467
Molecular consequence:
  • NM_000311.5:c.143G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001080121.3:c.143G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001080122.3:c.143G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001080123.3:c.143G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183079.4:c.143G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271561.3:c.54G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002048144ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)		Uncertain significance
(Mar 9, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV002048144.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The PRNP c.143G>A; p.Arg48His variant (rs945136467), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 895060). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The arginine at codon 48 is moderately conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.469). Due to limited information, the clinical significance of the p.Arg48His variant is uncertain at this time.

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

Last Updated: Nov 10, 2024