NM_021133.4(RNASEL):c.1243A>G (p.Ser415Gly) AND Prostate cancer, hereditary, 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 17, 2022
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:: RCV002279817.2

Allele description [Variation Report for NM_021133.4(RNASEL):c.1243A>G (p.Ser415Gly)]

NM_021133.4(RNASEL):c.1243A>G (p.Ser415Gly)

Gene:

RNASEL:ribonuclease L [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q25.3

Genomic location:

Preferred name:

NM_021133.4(RNASEL):c.1243A>G (p.Ser415Gly)

HGVS:

NC_000001.11:g.182585564T>C
NG_009024.2:g.6410A>G
NM_021133.4:c.1243A>GMANE SELECT
NP_066956.1:p.Ser415Gly
NC_000001.10:g.182554699T>C

Protein change:

S415G

Links:

dbSNP: rs2102370272

NCBI 1000 Genomes Browser:

rs2102370272

Molecular consequence:

NM_021133.4:c.1243A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Prostate cancer, hereditary, 1 (HPC1)
Identifiers:: MONDO: MONDO:0011098; MedGen: C4722327; Orphanet: 1331; OMIM: 601518

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002567859	Laboratory of Virology, Oncology, Biosciences and Environment, Faculty of Sciences and Techniques, Mohammedia- University Hassan II of Casablanca	no assertion criteria provided	Uncertain significance (Aug 17, 2022)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002567859

Laboratory of Virology, Oncology, Biosciences and Environment, Faculty of Sciences and Techniques, Mohammedia- University Hassan II of Casablanca

no assertion criteria provided

Uncertain significance
(Aug 17, 2022)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Moroccan	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Laboratory of Virology, Oncology, Biosciences and Environment, Faculty of Sciences and Techniques, Mohammedia- University Hassan II of Casablanca, SCV002567859.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Moroccan	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

Last Updated: Dec 24, 2023

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Relating variation to medicine