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NM_000311.5(PRNP):c.110G>A (p.Arg37Gln) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 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:
RCV002641730.2

Allele description [Variation Report for NM_000311.5(PRNP):c.110G>A (p.Arg37Gln)]

NM_000311.5(PRNP):c.110G>A (p.Arg37Gln)

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.110G>A (p.Arg37Gln)
HGVS:
  • NC_000020.11:g.4699330G>A
  • NG_009087.1:g.18180G>A
  • NM_000311.5:c.110G>AMANE SELECT
  • NM_001080121.3:c.110G>A
  • NM_001080122.3:c.110G>A
  • NM_001080123.3:c.110G>A
  • NM_001271561.3:c.21G>A
  • NM_183079.4:c.110G>A
  • NP_000302.1:p.Arg37Gln
  • NP_001073590.1:p.Arg37Gln
  • NP_001073591.1:p.Arg37Gln
  • NP_001073592.1:p.Arg37Gln
  • NP_001258490.1:p.Pro7=
  • NP_898902.1:p.Arg37Gln
  • NC_000020.10:g.4679976G>A
  • NM_000311.3:c.110G>A
Protein change:
R37Q
Molecular consequence:
  • NM_000311.5:c.110G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001080121.3:c.110G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001080122.3:c.110G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001080123.3:c.110G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183079.4:c.110G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271561.3:c.21G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV003530337Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 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 Ambry Genetics, SCV003530337.2

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

Description

The c.110G>A (p.R37Q) alteration is located in exon 2 (coding exon 1) of the PRNP gene. This alteration results from a G to A substitution at nucleotide position 110, causing the arginine (R) at amino acid position 37 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, 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