NM_002905.5(RDH5):c.382G>A (p.Asp128Asn) AND Pigmentary retinal dystrophy

Germline classification:: Likely pathogenic (3 submissions)
Last evaluated:: Mar 29, 2023
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:: RCV000786016.4

Allele description [Variation Report for NM_002905.5(RDH5):c.382G>A (p.Asp128Asn)]

NM_002905.5(RDH5):c.382G>A (p.Asp128Asn)

Genes:

BLOC1S1-RDH5:BLOC1S1-RDH5 readthrough [Gene]
RDH5:retinol dehydrogenase 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.2

Genomic location:

Preferred name:

NM_002905.5(RDH5):c.382G>A (p.Asp128Asn)

HGVS:

NC_000012.12:g.55721760G>A
NG_008606.1:g.6394G>A
NM_001199771.3:c.382G>A
NM_002905.4:c.382G>A
NM_002905.5:c.382G>AMANE SELECT
NP_001186700.1:p.Asp128Asn
NP_002896.2:p.Asp128Asn
NC_000012.11:g.56115544G>A
NM_001199771.1:c.382G>A
NM_002905.3:c.382G>A
NR_037658.1:n.441G>A

Protein change:

D128N

Links:

dbSNP: rs377029071

NCBI 1000 Genomes Browser:

rs377029071

Molecular consequence:

NM_001199771.3:c.382G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002905.5:c.382G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_037658.1:n.441G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Pigmentary retinal dystrophy
Synonyms:: Fundus albipunctatus
Identifiers:: MONDO: MONDO:0007639; MedGen: C0311338; Orphanet: 227796; Orphanet: 52427; OMIM: 136880; Human Phenotype Ontology: HP:0030642

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000924656	Molecular Genetics Laboratory, Institute for Ophthalmic Research	no assertion criteria provided	Pathogenic (Dec 13, 2017)	inherited	research
SCV001161232	Sharon lab, Hadassah-Hebrew University Medical Center	no assertion criteria provided	Pathogenic (Jun 23, 2019)	inherited	research
SCV004238617	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 29, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000924656

Molecular Genetics Laboratory, Institute for Ophthalmic Research

no assertion criteria provided

Pathogenic
(Dec 13, 2017)

inherited

research

SCV001161232

Sharon lab, Hadassah-Hebrew University Medical Center

no assertion criteria provided

Pathogenic
(Jun 23, 2019)

inherited

research

SCV004238617

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 29, 2023)

germline

clinical testing

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	inherited	yes	not provided	not provided	not provided	not provided	not provided	research

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 Molecular Genetics Laboratory, Institute for Ophthalmic Research, SCV000924656.1

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

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

From Sharon lab, Hadassah-Hebrew University Medical Center, SCV001161232.1

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

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

From Revvity Omics, Revvity, SCV004238617.1

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

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

Last Updated: Sep 29, 2024

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