NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) AND Macular dystrophy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 2018
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:: RCV000787664.2

Allele description [Variation Report for NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)]

NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)

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.515G>A (p.Arg172Gln)

HGVS:

NC_000006.12:g.42721820C>T
NG_009176.2:g.5801G>A
NM_000322.5:c.515G>AMANE SELECT
NP_000313.2:p.Arg172Gln
NC_000006.11:g.42689558C>T
NG_009176.1:g.5801G>A
NM_000322.4:c.515G>A

Protein change:

R172Q; ARG172GLN

Links:

OMIM: 179605.0006; dbSNP: rs61755793

NCBI 1000 Genomes Browser:

rs61755793

Molecular consequence:

NM_000322.5:c.515G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Macular dystrophy
Identifiers:: MedGen: C0730292; Human Phenotype Ontology: HP:0007754

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000926653	Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet - VeluxRD	no assertion criteria provided	Pathogenic (Apr 1, 2018)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000926653

Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet - VeluxRD

no assertion criteria provided

Pathogenic
(Apr 1, 2018)

unknown

research

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	unknown	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Jespersgaard C, Fang M, Bertelsen M, Dang X, Jensen H, Chen Y, Bech N, Dai L, Rosenberg T, Zhang J, Møller LB, Tümer Z, Brøndum-Nielsen K, Grønskov K.

Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2.

PubMed [citation]

PMID:: 30718709
PMCID:: PMC6362094

Details of each submission

From Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet - VeluxRD, SCV000926653.2

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

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

Last Updated: Nov 24, 2024

ClinVar

Relating variation to medicine