NM_000322.5(PRPH2):c.454A>G (p.Met152Val) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 4, 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:: RCV001530339.2

Allele description [Variation Report for NM_000322.5(PRPH2):c.454A>G (p.Met152Val)]

NM_000322.5(PRPH2):c.454A>G (p.Met152Val)

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.454A>G (p.Met152Val)

HGVS:

NC_000006.12:g.42721881T>C
NG_009176.2:g.5740A>G
NM_000322.5:c.454A>GMANE SELECT
NP_000313.2:p.Met152Val
NC_000006.11:g.42689619T>C
NG_009176.1:g.5740A>G
NM_000322.4:c.454A>G

Protein change:

M152V

Links:

dbSNP: rs146703538

NCBI 1000 Genomes Browser:

rs146703538

Molecular consequence:

NM_000322.5:c.454A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001745134	Leiden Open Variation Database	no assertion criteria provided	Uncertain significance (Jun 4, 2021)	germline	curation	PubMed (3) [See all records that cite these PMIDs] 18310263, 25268133, 31213501

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001745134

Leiden Open Variation Database

no assertion criteria provided

Uncertain significance
(Jun 4, 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

Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study.

Jin ZB, Mandai M, Yokota T, Higuchi K, Ohmori K, Ohtsuki F, Takakura S, Itabashi T, Wada Y, Akimoto M, Ooto S, Suzuki T, Hirami Y, Ikeda H, Kawagoe N, Oishi A, Ichiyama S, Takahashi M, Yoshimura N, Kosugi S.

J Med Genet. 2008 Jul;45(7):465-72. doi: 10.1136/jmg.2007.056416. Epub 2008 Feb 29.

PubMed [citation]

PMID:: 18310263

Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.

Katagiri S, Akahori M, Sergeev Y, Yoshitake K, Ikeo K, Furuno M, Hayashi T, Kondo M, Ueno S, Tsunoda K, Shinoda K, Kuniyoshi K, Tsurusaki Y, Matsumoto N, Tsuneoka H, Iwata T.

PLoS One. 2014;9(9):e108721. doi: 10.1371/journal.pone.0108721.

PubMed [citation]

PMID:: 25268133
PMCID:: PMC4182560

See all PubMed Citations (3)

Details of each submission

From Leiden Open Variation Database, SCV001745134.1

#	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, 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: Nov 3, 2024

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