NM_000322.5(PRPH2):c.303C>T (p.Tyr101=) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Apr 6, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000084962.2

Allele description [Variation Report for NM_000322.5(PRPH2):c.303C>T (p.Tyr101=)]

NM_000322.5(PRPH2):c.303C>T (p.Tyr101=)

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.303C>T (p.Tyr101=)
HGVS:
  • NC_000006.12:g.42722032G>A
  • NG_009176.1:g.5589C>T
  • NG_009176.2:g.5589C>T
  • NM_000322.5:c.303C>TMANE SELECT
  • NP_000313.2:p.Tyr101=
  • NC_000006.11:g.42689770G>A
  • NM_000322.4:c.303C>T
Links:
dbSNP: rs61755776
NCBI 1000 Genomes Browser:
rs61755776
Molecular consequence:
  • NM_000322.5:c.303C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000117098Retina International
no classification provided
not providednot providednot provided

SCV001744943Leiden Open Variation Database
no assertion criteria provided
Uncertain significance
(Apr 6, 2021) 		germlinecuration

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

Description

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa.

Dryja TP, Hahn LB, Kajiwara K, Berson EL.

Invest Ophthalmol Vis Sci. 1997 Sep;38(10):1972-82.

PubMed [citation]
PMID:
9331261

Details of each submission

From Retina International, SCV000117098.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

From Leiden Open Variation Database, SCV001744943.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters.

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

Last Updated: Apr 23, 2022