NM_000322.5(PRPH2):c.631_632insA (p.Phe211fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 24, 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:: RCV001530318.1

Allele description [Variation Report for NM_000322.5(PRPH2):c.631_632insA (p.Phe211fs)]

NM_000322.5(PRPH2):c.631_632insA (p.Phe211fs)

Gene:

PRPH2:peripherin 2 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

6p21.1

Genomic location:

Preferred name:

NM_000322.5(PRPH2):c.631_632insA (p.Phe211fs)

HGVS:

NC_000006.12:g.42704561_42704562insT
NG_009176.2:g.23059_23060insA
NM_000322.5:c.631_632insAMANE SELECT
NP_000313.2:p.Phe211fs
NC_000006.11:g.42672299_42672300insT
NM_000322.4:c.631_632insA

Protein change:

F211fs

Links:

dbSNP: rs2152005352

NCBI 1000 Genomes Browser:

rs2152005352

Molecular consequence:

NM_000322.5:c.631_632insA - 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
SCV001745091	Leiden Open Variation Database	no assertion criteria provided	Pathogenic (Jul 24, 2019)	germline	curation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001745091

Leiden Open Variation Database

no assertion criteria provided

Pathogenic
(Jul 24, 2019)

germline

curation

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

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

Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients.

Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Omodaka K, Abe T, Komori S, Gao D, Hirakata T, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, et al.

J Med Genet. 2019 Oct;56(10):662-670. doi: 10.1136/jmedgenet-2018-105691. Epub 2019 Jun 17.

PubMed [citation]

PMID:: 31213501

Details of each submission

From Leiden Open Variation Database, SCV001745091.1

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

Description

Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Yoshito Koyanagi.

#	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: Jun 23, 2024

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