NM_000322.5(PRPH2):c.708C>T (p.Tyr236=) AND not specified

Germline classification:: Likely benign (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:: RCV001530323.2

Allele description [Variation Report for NM_000322.5(PRPH2):c.708C>T (p.Tyr236=)]

NM_000322.5(PRPH2):c.708C>T (p.Tyr236=)

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.708C>T (p.Tyr236=)

HGVS:

NC_000006.12:g.42704485G>A
NG_009176.2:g.23136C>T
NM_000322.5:c.708C>TMANE SELECT
NP_000313.2:p.Tyr236=
NC_000006.11:g.42672223G>A
NG_009176.1:g.23136C>T
NM_000322.4:c.708C>T

Links:

dbSNP: rs61755813

NCBI 1000 Genomes Browser:

rs61755813

Molecular consequence:

NM_000322.5:c.708C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV001745101	Leiden Open Variation Database	no assertion criteria provided	Likely benign (Apr 6, 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

SCV001745101

Leiden Open Variation Database

no assertion criteria provided

Likely benign
(Apr 6, 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

Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa.

Dryja TP, Hahn LB, Kajiwara K, Berson EL.

Invest Ophthalmol Vis Sci. 1997 Sep;38(10):1972-82.

PubMed [citation]

PMID:: 9331261

Details of each submission

From Leiden Open Variation Database, SCV001745101.1

#	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: 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: Nov 24, 2024

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