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NM_000322.5(PRPH2):c.198_202delinsAAGACACA (p.Met67_Gly68delinsArgHisArg) AND not provided

Germline classification:
Uncertain significance (1 submission)
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:
RCV001530296.1

Allele description [Variation Report for NM_000322.5(PRPH2):c.198_202delinsAAGACACA (p.Met67_Gly68delinsArgHisArg)]

NM_000322.5(PRPH2):c.198_202delinsAAGACACA (p.Met67_Gly68delinsArgHisArg)

Gene:
PRPH2:peripherin 2 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_000322.5(PRPH2):c.198_202delinsAAGACACA (p.Met67_Gly68delinsArgHisArg)
HGVS:
  • NC_000006.12:g.42722133_42722137delinsTGTGTCTT
  • NG_009176.2:g.5484_5488delinsAAGACACA
  • NM_000322.5:c.198_202delinsAAGACACAMANE SELECT
  • NP_000313.2:p.Met67_Gly68delinsArgHisArg
  • NC_000006.11:g.42689871_42689875delinsTGTGTCTT
  • NG_009176.1:g.5484_5488delinsAAGACACA
  • NM_000322.4:c.198_202delinsAAGACACA
Links:
dbSNP: rs63749073
NCBI 1000 Genomes Browser:
rs63749073
Molecular consequence:
  • NM_000322.5:c.198_202delinsAAGACACA - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001745059Leiden Open Variation Database
no assertion criteria provided
Uncertain significance
(Apr 6, 2021) 		germlinecuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene.

Jacobson SG, Cideciyan AV, Kemp CM, Sheffield VC, Stone EM.

Invest Ophthalmol Vis Sci. 1996 Jul;37(8):1662-74.

PubMed [citation]
PMID:
8675410

Details of each submission

From Leiden Open Variation Database, SCV001745059.1

#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: Sep 29, 2024