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NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys) AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Nov 22, 2023
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:
RCV003114279.11

Allele description [Variation Report for NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys)]

NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys)

Gene:
PRPH2:peripherin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys)
Other names:
p.R310K:AGG>AAG
HGVS:
  • NC_000006.12:g.42698407C>T
  • NG_009176.2:g.29214G>A
  • NM_000322.5:c.929G>AMANE SELECT
  • NP_000313.2:p.Arg310Lys
  • NP_000313.2:p.Arg310Lys
  • NC_000006.11:g.42666145C>T
  • NG_009176.1:g.29214G>A
  • NM_000322.4:c.929G>A
Protein change:
R310K
Links:
dbSNP: rs425876
NCBI 1000 Genomes Browser:
rs425876
Molecular consequence:
  • NM_000322.5:c.929G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003799807ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)
Benign
(Nov 22, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV003799807.3

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

Last Updated: Dec 7, 2024