NM_000322.5(PRPH2):c.310_313del (p.Ile104fs) AND not provided

Germline classification:: Pathogenic (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:: RCV001530221.1

Allele description [Variation Report for NM_000322.5(PRPH2):c.310_313del (p.Ile104fs)]

NM_000322.5(PRPH2):c.310_313del (p.Ile104fs)

Gene:

PRPH2:peripherin 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6p21.1

Genomic location:

Preferred name:

NM_000322.5(PRPH2):c.310_313del (p.Ile104fs)

HGVS:

NC_000006.12:g.42722024_42722027del
NG_009176.2:g.5596_5599del
NM_000322.5:c.310_313delMANE SELECT
NP_000313.2:p.Ile104fs
NC_000006.11:g.42689760_42689763del
NC_000006.11:g.42689762_42689765del
NG_009176.1:g.5596_5599del
NM_000322.4:c.310_313del

Protein change:

I104fs

Links:

dbSNP: rs1761913253

NCBI 1000 Genomes Browser:

rs1761913253

Molecular consequence:

NM_000322.5:c.310_313del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001744945	Leiden Open Variation Database	no assertion criteria provided	Pathogenic (Apr 6, 2021)	germline	curation	PubMed (3) [See all records that cite these PMIDs] 25082885, 29555955, 32531846

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001744945

Leiden Open Variation Database

no assertion criteria provided

Pathogenic
(Apr 6, 2021)

germline

curation

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.

Alapati A, Goetz K, Suk J, Navani M, Al-Tarouti A, Jayasundera T, Tumminia SJ, Lee P, Ayyagari R.

Invest Ophthalmol Vis Sci. 2014 Jul 31;55(9):5510-21. doi: 10.1167/iovs.14-14359.

PubMed [citation]

PMID:: 25082885
PMCID:: PMC4152151

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.

Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P.

Sci Rep. 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0.

PubMed [citation]

PMID:: 29555955
PMCID:: PMC5859282

See all PubMed Citations (3)

Details of each submission

From Leiden Open Variation Database, SCV001744945.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (3)

Description

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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