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NM_000311.5(PRNP):c.180T>C (p.Pro60=) AND Spongiform encephalopathy with neuropsychiatric features

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 26, 2016
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:
RCV000549562.3

Allele description [Variation Report for NM_000311.5(PRNP):c.180T>C (p.Pro60=)]

NM_000311.5(PRNP):c.180T>C (p.Pro60=)

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.180T>C (p.Pro60=)
HGVS:
  • NC_000020.11:g.4699400T>C
  • NG_009087.1:g.18250T>C
  • NM_000311.5:c.180T>CMANE SELECT
  • NM_001080121.3:c.180T>C
  • NM_001080122.3:c.180T>C
  • NM_001080123.3:c.180T>C
  • NM_001271561.3:c.91T>C
  • NM_183079.4:c.180T>C
  • NP_000302.1:p.Pro60=
  • NP_001073590.1:p.Pro60=
  • NP_001073591.1:p.Pro60=
  • NP_001073592.1:p.Pro60=
  • NP_001258490.1:p.Ser31Pro
  • NP_898902.1:p.Pro60=
  • NC_000020.10:g.4680046T>C
  • NM_001271561.1:c.91T>C
  • p.S31P
Protein change:
S31P
Links:
dbSNP: rs1386720703
NCBI 1000 Genomes Browser:
rs1386720703
Molecular consequence:
  • NM_001271561.3:c.91T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000311.5:c.180T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001080121.3:c.180T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001080122.3:c.180T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001080123.3:c.180T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_183079.4:c.180T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Spongiform encephalopathy with neuropsychiatric features
Identifiers:
MONDO: MONDO:0011703; MedGen: C1847650; OMIM: 606688

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000622169Undiagnosed Diseases Network, NIH
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 26, 2016) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Black or African Americanunknownyes1not 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 Undiagnosed Diseases Network, NIH, SCV000622169.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Black or African American1not providednot providedclinical testing
(GTR000508680.4)		 PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided
(GTR000508680.4)		1not providednot providednot provided

Last Updated: May 16, 2025