U.S. flag

An official website of the United States government

NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) AND Vitelliform macular dystrophy 3

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 23, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002288583.3

Allele description [Variation Report for NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp)]

NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp)

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.658C>T (p.Arg220Trp)
HGVS:
  • NC_000006.12:g.42704535G>A
  • NG_009176.2:g.23086C>T
  • NM_000322.5:c.658C>TMANE SELECT
  • NP_000313.2:p.Arg220Trp
  • NC_000006.11:g.42672273G>A
  • NG_009176.1:g.23086C>T
  • NM_000322.4:c.658C>T
Protein change:
R220W
Links:
dbSNP: rs61755809
NCBI 1000 Genomes Browser:
rs61755809
Molecular consequence:
  • NM_000322.5:c.658C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Vitelliform macular dystrophy 3 (VMD3)
Synonyms:
PRPH2 vitelliform macular dystrophy; vitelliform macular dystrophy caused by mutation in PRPH2
Identifiers:
MONDO: MONDO:0024561; MedGen: CN295869; OMIM: 608161

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002579026MGZ Medical Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Mar 23, 2022)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From MGZ Medical Genetics Center, SCV002579026.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024