NM_145239.3(PRRT2):c.647C>A (p.Pro216His) AND not specified

Clinical significance:Likely benign (Last evaluated: Mar 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000188770.3

Allele description [Variation Report for NM_145239.3(PRRT2):c.647C>A (p.Pro216His)]

NM_145239.3(PRRT2):c.647C>A (p.Pro216His)

Gene:
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>A (p.Pro216His)
Other names:
p.P216H:CCC>CAC
HGVS:
  • NC_000016.10:g.29813701C>A
  • NG_032039.1:g.6614C>A
  • NM_001256442.2:c.647C>A
  • NM_001256443.2:c.647C>A
  • NM_145239.3:c.647C>AMANE SELECT
  • NP_001243371.1:p.Pro216His
  • NP_001243372.1:p.Pro216His
  • NP_660282.2:p.Pro216His
  • NC_000016.9:g.29825022C>A
  • NM_145239.2:c.647C>A
Protein change:
P216H
Links:
dbSNP: rs76335820
NCBI 1000 Genomes Browser:
rs76335820
Molecular consequence:
  • NM_001256442.2:c.647C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256443.2:c.647C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145239.3:c.647C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

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
SCV000703161EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Mar 1, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000703161.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Sep 23, 2021

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