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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:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000114688Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Benign
(May 9, 2013)
germlineclinical testing

Citation Link,

SCV000152395Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benign
(Aug 27, 2015)
germlineclinical testing

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

SCV000171201GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Benign
(Dec 11, 2013)
germlineclinical testing

Citation Link,

SCV001475995Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)
Benign
(Dec 30, 2019)
unknownclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown2not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenonot providednot 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

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV000171201.12

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

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Athena Diagnostics, SCV001475995.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024