NM_000322.5(PRPH2):c.545dup (p.Asn182fs) AND Choroidal dystrophy, central areolar 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 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:: RCV001787315.2

Allele description [Variation Report for NM_000322.5(PRPH2):c.545dup (p.Asn182fs)]

NM_000322.5(PRPH2):c.545dup (p.Asn182fs)

Gene:

PRPH2:peripherin 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

6p21.1

Genomic location:

Preferred name:

NM_000322.5(PRPH2):c.545dup (p.Asn182fs)

HGVS:

NC_000006.12:g.42721791dup
NG_009176.2:g.5831dup
NM_000322.5:c.545dupMANE SELECT
NP_000313.2:p.Asn182fs
NC_000006.11:g.42689529dup
NM_000322.5:c.545dupAMANE SELECT

Protein change:

N182fs

Links:

dbSNP: rs2152010877

NCBI 1000 Genomes Browser:

rs2152010877

Molecular consequence:

NM_000322.5:c.545dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Choroidal dystrophy, central areolar 2 (CACD2)
Synonyms:: MACULAR DYSTROPHY, PROGRESSIVE; Choriodal Dystrophy, Central Areolar 2
Identifiers:: MONDO: MONDO:0013137; MedGen: C2751290; Orphanet: 75377; OMIM: 613105

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
SCV002029210	Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	no assertion criteria provided	Pathogenic (Oct 4, 2021)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002029210

Clinical Genetics Laboratory, University Hospital Schleswig-Holstein

no assertion criteria provided

Pathogenic
(Oct 4, 2021)

germline

clinical testing

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	clinical testing

Details of each submission

From Clinical Genetics Laboratory, University Hospital Schleswig-Holstein, SCV002029210.1

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

#	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

ClinVar

Relating variation to medicine