NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) AND not specified

Germline classification:: Benign (4 submissions)
Last evaluated:: Dec 30, 2019
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:: RCV000082646.25

Allele description [Variation Report for NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)]

NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)

Genes:

MVP-DT:MVP divergent transcript [Gene - HGNC]
PRRT2:proline rich transmembrane protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p11.2

Genomic location:

Preferred name:

NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)

Other names:

p.P216L:CCC>CTC

HGVS:

NC_000016.10:g.29813701C>T
NG_032039.1:g.6614C>T
NM_001256442.2:c.647C>T
NM_001256443.2:c.647C>T
NM_145239.3:c.647C>TMANE SELECT
NP_001243371.1:p.Pro216Leu
NP_001243372.1:p.Pro216Leu
NP_660282.2:p.Pro216Leu
NP_660282.2:p.Pro216Leu
NC_000016.9:g.29825022C>T
NM_001256443.1:c.647C>T
NM_145239.2:c.647C>T
Q7Z6L0:p.Pro216Leu

Protein change:

P216L

Links:

UniProtKB: Q7Z6L0#VAR_067321; dbSNP: rs76335820

NCBI 1000 Genomes Browser:

rs76335820

Molecular consequence:

NM_001256442.2:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001256443.2:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_145239.3:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000114688	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (May 9, 2013)	germline	clinical testing	Citation Link,
SCV000152395	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Aug 27, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000171201	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Dec 11, 2013)	germline	clinical testing	Citation Link,
SCV001475995	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Dec 30, 2019)	unknown	clinical testing	PubMed (8) [See all records that cite these PMIDs] 24828792, 23077024, 23566103, 24594579, 31124310, 23529024, 22243967, 26467025

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

Towards the identification of a genetic basis for Landau-Kleffner syndrome.

Conroy J, McGettigan PA, McCreary D, Shah N, Collins K, Parry-Fielder B, Moran M, Hanrahan D, Deonna TW, Korff CM, Webb D, Ennis S, Lynch SA, King MD.

Epilepsia. 2014 Jun;55(6):858-65. doi: 10.1111/epi.12645. Epub 2014 May 14.

PubMed [citation]

PMID:: 24828792

See all PubMed Citations (9)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000114688.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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	unknown	not provided	not provided	not provided		2	not provided	not provided	not provided

From Genetic Services Laboratory, University of Chicago, SCV000152395.3

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneDx, SCV000171201.12

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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 Athena Diagnostics, SCV001475995.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (8)

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

Last Updated: Jun 23, 2024

ClinVar

Relating variation to medicine