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NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr) AND Retinal dystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 29, 2019
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:
RCV001074371.2

Allele description [Variation Report for NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr)]

NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr)

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.638G>A (p.Cys213Tyr)
HGVS:
  • NC_000006.12:g.42704555C>T
  • NG_009176.2:g.23066G>A
  • NM_000322.5:c.638G>AMANE SELECT
  • NP_000313.2:p.Cys213Tyr
  • NC_000006.11:g.42672293C>T
  • NG_009176.1:g.23066G>A
  • NM_000322.4:c.638G>A
Protein change:
C213Y
Links:
dbSNP: rs61755803
NCBI 1000 Genomes Browser:
rs61755803
Molecular consequence:
  • NM_000322.5:c.638G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Retinal dystrophy
Synonyms:
Inherited retinal dystrophy
Identifiers:
MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001239948Blueprint Genetics
criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)		Pathogenic
(Jul 29, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001239948.1

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

Last Updated: Sep 29, 2024