NM_000322.5(PRPH2):c.80C>T (p.Ser27Phe) AND not provided

Germline classification:: Likely pathogenic (2 submissions)
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:: RCV000085024.2

Allele description [Variation Report for NM_000322.5(PRPH2):c.80C>T (p.Ser27Phe)]

NM_000322.5(PRPH2):c.80C>T (p.Ser27Phe)

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.80C>T (p.Ser27Phe)

HGVS:

NC_000006.12:g.42722255G>A
NG_009176.2:g.5366C>T
NM_000322.5:c.80C>TMANE SELECT
NP_000313.2:p.Ser27Phe
NC_000006.11:g.42689993G>A
NG_009176.1:g.5366C>T
NM_000322.4:c.80C>T

Protein change:

S27F

Links:

dbSNP: rs61755766

NCBI 1000 Genomes Browser:

rs61755766

Molecular consequence:

NM_000322.5:c.80C>T - 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
SCV000117160	Retina International	no classification provided	not provided	not provided	not provided
SCV001745031	Leiden Open Variation Database	no assertion criteria provided	Likely pathogenic (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

SCV000117160

Retina International

no classification provided

not provided

SCV001745031

Leiden Open Variation Database

no assertion criteria provided

Likely pathogenic
(Apr 6, 2021)

germline

curation

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

Description

http://phencode.bx.psu.edu/cgi-bin/phencode/phencode?build=hg19&id=RISN_RDS:c.80C>T: SCV000117160

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy.

Fishman GA, Stone EM, Alexander KR, Gilbert LD, Derlacki DJ, Butler NS.

Ophthalmology. 1997 Feb;104(2):299-306.

PubMed [citation]

PMID:: 9052636

Details of each submission

From Retina International, SCV000117160.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	not provided

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

From Leiden Open Variation Database, SCV001745031.1

#	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: Oct 8, 2024

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