NM_000311.5(PRNP):c.204T>C (p.Pro68=) AND not provided

Germline classification:: Benign (4 submissions)
Last evaluated:: Oct 25, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001580001.5

Allele description [Variation Report for NM_000311.5(PRNP):c.204T>C (p.Pro68=)]

NM_000311.5(PRNP):c.204T>C (p.Pro68=)

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.204T>C (p.Pro68=)

HGVS:

NC_000020.11:g.4699424T>C
NG_009087.1:g.18274T>C
NM_000311.5:c.204T>CMANE SELECT
NM_001080121.3:c.204T>C
NM_001080122.3:c.204T>C
NM_001080123.3:c.204T>C
NM_001271561.3:c.115T>C
NM_183079.4:c.204T>C
NP_000302.1:p.Pro68=
NP_001073590.1:p.Pro68=
NP_001073591.1:p.Pro68=
NP_001073592.1:p.Pro68=
NP_001258490.1:p.Ser39Pro
NP_898902.1:p.Pro68=
NC_000020.10:g.4680070T>C
NM_000311.3:c.204T>C

Protein change:

S39P

Links:

dbSNP: rs532493114

NCBI 1000 Genomes Browser:

rs532493114

Molecular consequence:

NM_001271561.3:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_000311.5:c.204T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001080121.3:c.204T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001080122.3:c.204T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001080123.3:c.204T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_183079.4:c.204T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001809319	Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001964863	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001988822	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Oct 25, 2021)	germline	clinical testing	Citation Link,
SCV005309443	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	not provided	PubMed (1) [See all records that cite this PMID]

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing, not provided

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 Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001809319.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001964863.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneDx, SCV001988822.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Breakthrough Genomics, Breakthrough Genomics, SCV005309443.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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