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NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 8, 2018
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:
RCV002312241.9

Allele description [Variation Report for NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys)]

NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys)

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.67G>A (p.Glu23Lys)
HGVS:
  • NC_000016.10:g.29813121G>A
  • NG_032039.1:g.6034G>A
  • NM_001256442.1:c.67G>A
  • NM_001256442.2:c.67G>A
  • NM_001256443.2:c.67G>A
  • NM_145239.3:c.67G>AMANE SELECT
  • NP_001243371.1:p.Glu23Lys
  • NP_001243372.1:p.Glu23Lys
  • NP_660282.2:p.Glu23Lys
  • NC_000016.9:g.29824442G>A
  • NM_145239.2:c.67G>A
Protein change:
E23K
Links:
dbSNP: rs140383655
NCBI 1000 Genomes Browser:
rs140383655
Molecular consequence:
  • NM_001256442.2:c.67G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256443.2:c.67G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145239.3:c.67G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000845858Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Sep 8, 2018) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders.

Huguet G, Nava C, Lemière N, Patin E, Laval G, Ey E, Brice A, Leboyer M, Szepetowski P, Gillberg C, Depienne C, Delorme R, Bourgeron T.

PLoS One. 2014;9(3):e88600. doi: 10.1371/journal.pone.0088600. Erratum in: PLoS One. 2014;9(6):e100607.

PubMed [citation]
PMID:
24594579
PMCID:
PMC3940422

Details of each submission

From Ambry Genetics, SCV000845858.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 26, 2024