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NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) AND Inborn genetic diseases

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 7, 2016
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:
RCV002311740.9

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]

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
SCV000845845Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Jul 7, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000845845.5

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

Description

This alteration is classified as 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: Nov 10, 2024