NM_002905.5(RDH5):c.558dup (p.Asp187Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 9, 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:: RCV002042013.4

Allele description [Variation Report for NM_002905.5(RDH5):c.558dup (p.Asp187Ter)]

NM_002905.5(RDH5):c.558dup (p.Asp187Ter)

Genes:

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

Variant type:

Duplication

Cytogenetic location:

12q13.2

Genomic location:

Preferred name:

NM_002905.5(RDH5):c.558dup (p.Asp187Ter)

HGVS:

NC_000012.12:g.55721936dup
NG_008606.1:g.6570dup
NM_001199771.3:c.558dup
NM_002905.5:c.558dupMANE SELECT
NP_001186700.1:p.Asp187Ter
NP_002896.2:p.Asp187Ter
NC_000012.11:g.56115719_56115720insT
NC_000012.11:g.56115720dup
NR_037658.1:n.617dup

Protein change:

D187*

Links:

dbSNP: rs1488443545

NCBI 1000 Genomes Browser:

rs1488443545

Molecular consequence:

NR_037658.1:n.617dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001199771.3:c.558dup - nonsense - [Sequence Ontology: SO:0001587]
NM_002905.5:c.558dup - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002109243	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Aug 9, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 11675386, 22815624, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002109243

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Aug 9, 2022)

germline

clinical testing

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

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

Citations

PubMed

Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus.

Lidén M, Romert A, Tryggvason K, Persson B, Eriksson U.

J Biol Chem. 2001 Dec 28;276(52):49251-7. Epub 2001 Oct 23.

PubMed [citation]

PMID:: 11675386

Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.

Pras E, Pras E, Reznik-Wolf H, Sharon D, Raivech S, Barkana Y, Abu-Horowitz A, Ygal R, Banin E.

Mol Vis. 2012;18:1712-8. Epub 2012 Jun 23.

PubMed [citation]

PMID:: 22815624
PMCID:: PMC3399783

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002109243.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1350634). This variant has not been reported in the literature in individuals affected with RDH5-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Asp187*) in the RDH5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RDH5 are known to be pathogenic (PMID: 11675386, 22815624).

#	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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