U.S. flag

An official website of the United States government

NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala) AND Retinitis pigmentosa 7

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 22, 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:
RCV002250712.1

Allele description [Variation Report for NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala)]

NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala)

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.518A>C (p.Asp173Ala)
HGVS:
  • NC_000006.12:g.42721817T>G
  • NG_009176.2:g.5804A>C
  • NM_000322.5:c.518A>CMANE SELECT
  • NP_000313.2:p.Asp173Ala
  • NC_000006.11:g.42689555T>G
  • NG_009176.1:g.5804A>C
  • NM_000322.4:c.518A>C
Protein change:
D173A
Links:
dbSNP: rs61755794
NCBI 1000 Genomes Browser:
rs61755794
Molecular consequence:
  • NM_000322.5:c.518A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Retinitis pigmentosa 7 (RP7)
Synonyms:
RP 7
Identifiers:
MONDO: MONDO:0011974; MedGen: C1842475; Orphanet: 791; OMIM: 608133

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV0025211233billion
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(May 22, 2022) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).

Sharon D, Ben-Yosef T, Goldenberg-Cohen N, Pras E, Gradstein L, Soudry S, Mezer E, Zur D, Abbasi AH, Zeitz C, Cremers FPM, Khan MI, Levy J, Rotenstreich Y, Birk OS, Ehrenberg M, Leibu R, Newman H, Shomron N, Banin E, Perlman I.

Hum Mutat. 2020 Jan;41(1):140-149. doi: 10.1002/humu.23903. Epub 2019 Sep 15.

PubMed [citation]
PMID:
31456290

Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa.

Grüning G, Millan JM, Meins M, Beneyto M, Caballero M, Apfelstedt-Sylla E, Bosch R, Zrenner E, Prieto F, Gal A.

Hum Mutat. 1994;3(3):321-3. No abstract available.

PubMed [citation]
PMID:
8019570
See all PubMed Citations (3)

Details of each submission

From 3billion, SCV002521123.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)

Description

The variant is not observed in the gnomAD v2.1.1 dataset. The variant is shared with similarly affected family member (EPL21-UNBO). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.96; 3Cnet: 1.00). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (PMID: 31456290). Different missense changes at the same codon (p.Asp173Gly, p.Asp173Val) have been reported to be associated with PRPH2 related disorder (ClinVar ID: VCV000013181, VCV000866675 / PMID: 8019570). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024