NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 28, 2020
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:: RCV001530227.1

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]

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
SCV001744964	Leiden Open Variation Database	no assertion criteria provided	Likely pathogenic (Aug 28, 2020)	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

SCV001744964

Leiden Open Variation Database

no assertion criteria provided

Likely pathogenic
(Aug 28, 2020)

germline

curation

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	germline	yes	not provided	not provided	not provided	not provided	not provided	curation

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

Details of each submission

From Leiden Open Variation Database, SCV001744964.1

#	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: Global Variome, with Curator vacancy.

#	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: Sep 29, 2024

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