NM_002905.5(RDH5):c.76G>A (p.Ala26Thr) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 1, 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:: RCV004036123.1

Allele description [Variation Report for NM_002905.5(RDH5):c.76G>A (p.Ala26Thr)]

NM_002905.5(RDH5):c.76G>A (p.Ala26Thr)

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.76G>A (p.Ala26Thr)

HGVS:

NC_000012.12:g.55721260G>A
NG_008606.1:g.5894G>A
NM_001199771.3:c.76G>A
NM_002905.3:c.76G>A
NM_002905.5:c.76G>AMANE SELECT
NP_001186700.1:p.Ala26Thr
NP_002896.2:p.Ala26Thr
NC_000012.11:g.56115044G>A

Protein change:

A26T

Links:

dbSNP: rs762299079

NCBI 1000 Genomes Browser:

rs762299079

Molecular consequence:

NM_001199771.3:c.76G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002905.5:c.76G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

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gamma-2-syntrophin isoform 1 [Mus musculus]
gamma-2-syntrophin isoform 1 [Mus musculus]
gi|269973907|ref|NP_766539.2|

Protein
Mus musculus 16 days embryo head cDNA, RIKEN full-length enriched library, clone...
Mus musculus 16 days embryo head cDNA, RIKEN full-length enriched library, clone:C130008P20 product:platelet-derived growth factor, C polypeptide, full insert sequence
gi|26099857|dbj|AK081347.1|

Nucleotide
Aortic Valve Prolapse
Aortic Valve Prolapse
The downward displacement of the cuspal or pointed end of the trileaflet AORTIC VALVE causing misalignment of the cusps. Severe valve distortion can cause leakage and allow th...<br/>Year introduced: 1988

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004939174	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004939174

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 1, 2023)

germline

clinical testing

Citation Link

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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

Details of each submission

From Ambry Genetics, SCV004939174.1

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

Description

The c.76G>A (p.A26T) alteration is located in exon 2 (coding exon 1) of the RDH5 gene. This alteration results from a G to A substitution at nucleotide position 76, causing the alanine (A) at amino acid position 26 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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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