NM_002905.5(RDH5):c.481A>G (p.Ile161Val) AND not provided

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Jan 25, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000947461.11

Allele description [Variation Report for NM_002905.5(RDH5):c.481A>G (p.Ile161Val)]

NM_002905.5(RDH5):c.481A>G (p.Ile161Val)

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.481A>G (p.Ile161Val)

HGVS:

NC_000012.12:g.55721859A>G
NG_008606.1:g.6493A>G
NM_001199771.3:c.481A>G
NM_002905.5:c.481A>GMANE SELECT
NP_001186700.1:p.Ile161Val
NP_002896.2:p.Ile161Val
NC_000012.11:g.56115643A>G
NM_002905.3:c.481A>G
NR_037658.1:n.540A>G

Protein change:

I161V

Links:

dbSNP: rs61733970

NCBI 1000 Genomes Browser:

rs61733970

Molecular consequence:

NM_001199771.3:c.481A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002905.5:c.481A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_037658.1:n.540A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Rattus norvegicus keratin 36 (Krt36), mRNA
Rattus norvegicus keratin 36 (Krt36), mRNA
gi|2322055692|ref|NM_001008759.2|

Nucleotide
TSA: Poeciliopsis prolifica comp196573_c0_seq3 transcribed RNA sequence
TSA: Poeciliopsis prolifica comp196573_c0_seq3 transcribed RNA sequence
gi|958221077|gb|GBYX01453698.1||gnl GBYX01|comp196573_c0_seq3

Nucleotide
R.norvegicus mRNA for ribosomal protein L10a
R.norvegicus mRNA for ribosomal protein L10a
gi|1370288|emb|X93352.1|

Nucleotide
hypothetical protein ZEAMMB73_Zm00001d000343 [Zea mays]
hypothetical protein ZEAMMB73_Zm00001d000343 [Zea mays]
gi|1142863810|gb|ONM63282.1||gnl|WG Q|ZEAMMB73_Zm00001d000343

Protein
Gjb1 gap junction protein, beta 1 [Rattus norvegicus]
Gjb1 gap junction protein, beta 1 [Rattus norvegicus]
Gene ID:29584

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001093640	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 25, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002012652	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (May 6, 2021)	germline	clinical testing	Citation Link,
SCV005213246	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001093640

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 25, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002012652

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(May 6, 2021)

germline

clinical testing

Citation Link,

SCV005213246

Breakthrough Genomics, Breakthrough Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign

germline

not provided

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	clinical testing, not provided
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV001093640.6

#	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

From GeneDx, SCV002012652.2

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

#	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

From Breakthrough Genomics, Breakthrough Genomics, SCV005213246.1

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

#	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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