NM_000311.5(PRNP):c.228_251del (p.60PHGGGWGQ[3]) AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 1, 2024
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:: RCV003883778.8

Allele description [Variation Report for NM_000311.5(PRNP):c.228_251del (p.60PHGGGWGQ[3])]

NM_000311.5(PRNP):c.228_251del (p.60PHGGGWGQ[3])

Gene:

PRNP:prion protein (Kanno blood group) [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

20p13

Genomic location:

Preferred name:

NM_000311.5(PRNP):c.228_251del (p.60PHGGGWGQ[3])

HGVS:

NC_000020.11:g.4699448_4699471del
NG_009087.1:g.18298_18321del
NM_000311.5:c.228_251delMANE SELECT
NM_001080121.3:c.228_251del
NM_001080122.3:c.228_251del
NM_001080123.3:c.228_251del
NM_001271561.3:c.139_162del
NM_183079.4:c.228_251del
NP_000302.1:p.60PHGGGWGQ[3]
NP_001073590.1:p.60PHGGGWGQ[3]
NP_001073591.1:p.60PHGGGWGQ[3]
NP_001073592.1:p.60PHGGGWGQ[3]
NP_001258490.1:p.Pro47_Ala54del
NP_898902.1:p.60PHGGGWGQ[3]
NC_000020.10:g.4680089_4680112del
NC_000020.10:g.4680094_4680117del

Links:

dbSNP: rs765275434

NCBI 1000 Genomes Browser:

rs765275434

Molecular consequence:

NM_000311.5:c.228_251del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001080121.3:c.228_251del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001080122.3:c.228_251del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001080123.3:c.228_251del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001271561.3:c.139_162del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_183079.4:c.228_251del - inframe_deletion - [Sequence Ontology: SO:0001822]

Observations:

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
SCV004698951	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Jan 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004698951

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Jan 1, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004698951.8

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

Description

PRNP: BS1

#	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		1	not provided	not provided	not provided

Last Updated: Oct 20, 2024

ClinVar

Relating variation to medicine