NM_000322.5(PRPH2):c.464C>G (p.Thr155Ser) AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: Jun 25, 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:: RCV001530344.1

Allele description [Variation Report for NM_000322.5(PRPH2):c.464C>G (p.Thr155Ser)]

NM_000322.5(PRPH2):c.464C>G (p.Thr155Ser)

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.464C>G (p.Thr155Ser)

HGVS:

NC_000006.12:g.42721871G>C
NG_009176.2:g.5750C>G
NM_000322.5:c.464C>GMANE SELECT
NP_000313.2:p.Thr155Ser
NC_000006.11:g.42689609G>C
NM_000322.4:c.464C>G

Protein change:

T155S

Links:

dbSNP: rs199572514

NCBI 1000 Genomes Browser:

rs199572514

Molecular consequence:

NM_000322.5:c.464C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001745141	Leiden Open Variation Database	no assertion criteria provided	Benign (Jun 25, 2021)	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

SCV001745141

Leiden Open Variation Database

no assertion criteria provided

Benign
(Jun 25, 2021)

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

Novel PRPF31 and PRPH2 mutations and co-occurrence of PRPF31 and RHO mutations in Chinese patients with retinitis pigmentosa.

Lim KP, Yip SP, Cheung SC, Leung KW, Lam ST, To CH.

Arch Ophthalmol. 2009 Jun;127(6):784-90. doi: 10.1001/archophthalmol.2009.112.

PubMed [citation]

PMID:: 19506198

Details of each submission

From Leiden Open Variation Database, SCV001745141.1

#	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: LOVD.

#	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: Dec 24, 2023

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