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NM_021133.4(RNASEL):c.1409A>C (p.Lys470Thr) 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:
RCV002279791.2

Allele description [Variation Report for NM_021133.4(RNASEL):c.1409A>C (p.Lys470Thr)]

NM_021133.4(RNASEL):c.1409A>C (p.Lys470Thr)

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.1409A>C (p.Lys470Thr)
HGVS:
  • NC_000001.11:g.182585398T>G
  • NG_009024.2:g.6576A>C
  • NM_021133.4:c.1409A>CMANE SELECT
  • NP_066956.1:p.Lys470Thr
  • NC_000001.10:g.182554533T>G
Protein change:
K470T
Links:
dbSNP: rs2102369835
NCBI 1000 Genomes Browser:
rs2102369835
Molecular consequence:
  • NM_021133.4:c.1409A>C - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002567833Laboratory 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) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Moroccangermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Laboratory of Virology, Oncology, Biosciences and Environment, Faculty of Sciences and Techniques, Mohammedia- University Hassan II of Casablanca, SCV002567833.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Moroccannot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023