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NM_005061.3(RPL3L):c.28C>T (p.Arg10Trp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 30, 2021
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:
RCV004193158.1

Allele description [Variation Report for NM_005061.3(RPL3L):c.28C>T (p.Arg10Trp)]

NM_005061.3(RPL3L):c.28C>T (p.Arg10Trp)

Gene:
RPL3L:ribosomal protein L3 like [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_005061.3(RPL3L):c.28C>T (p.Arg10Trp)
HGVS:
  • NC_000016.10:g.1954124G>A
  • NG_132723.1:g.821G>A
  • NM_005061.3:c.28C>TMANE SELECT
  • NP_005052.1:p.Arg10Trp
  • NC_000016.9:g.2004125G>A
  • NM_005061.2:c.28C>T
Protein change:
R10W
Molecular consequence:
  • NM_005061.3:c.28C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003695174Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 30, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003695174.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.28C>T (p.R10W) alteration is located in exon 2 (coding exon 2) of the RPL3L gene. This alteration results from a C to T substitution at nucleotide position 28, causing the arginine (R) at amino acid position 10 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024