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NM_000322.5(PRPH2):c.441del (p.Gly148fs) AND maculopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 23, 2019
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:
RCV001003148.1

Allele description [Variation Report for NM_000322.5(PRPH2):c.441del (p.Gly148fs)]

NM_000322.5(PRPH2):c.441del (p.Gly148fs)

Gene:
PRPH2:peripherin 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_000322.5(PRPH2):c.441del (p.Gly148fs)
HGVS:
  • NC_000006.12:g.42721894del
  • NG_009176.2:g.5727del
  • NM_000322.5:c.441delMANE SELECT
  • NP_000313.2:p.Gly148fs
  • NC_000006.11:g.42689632del
  • NG_009176.1:g.5727del
  • NM_000322.4:c.441del
  • NM_000322.4:c.441delT
  • NM_000322.5:c.441delTMANE SELECT
Protein change:
G148fs
Links:
dbSNP: rs61755784
NCBI 1000 Genomes Browser:
rs61755784
Molecular consequence:
  • NM_000322.5:c.441del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
maculopathy
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001161217Sharon lab, Hadassah-Hebrew University Medical Center
no assertion criteria provided
Pathogenic
(Jun 23, 2019) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Sharon lab, Hadassah-Hebrew University Medical Center, SCV001161217.1

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

Last Updated: Nov 30, 2024