NM_005061.3(RPL3L):c.1076_1080del (p.Ala359fs) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 5, 2024
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:: RCV004591551.1

Allele description [Variation Report for NM_005061.3(RPL3L):c.1076_1080del (p.Ala359fs)]

NM_005061.3(RPL3L):c.1076_1080del (p.Ala359fs)

Gene:

RPL3L:ribosomal protein L3 like [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_005061.3(RPL3L):c.1076_1080del (p.Ala359fs)

HGVS:

NC_000016.10:g.1945587_1945591del
NM_005061.3:c.1076_1080delMANE SELECT
NP_005052.1:p.Ala359fs
NC_000016.9:g.1995588_1995592del
NM_005061.2:c.1076_1080del

Protein change:

A359fs

Links:

dbSNP: rs2150860676

NCBI 1000 Genomes Browser:

rs2150860676

Molecular consequence:

NM_005061.3:c.1076_1080del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Y7A5A.8 DUF1713 domain-containing protein [Caenorhabditis elegans]
Y7A5A.8 DUF1713 domain-containing protein [Caenorhabditis elegans]
Gene ID:189387

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005078535	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Feb 5, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005078535

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Feb 5, 2024)

germline

clinical testing

Citation Link

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

Details of each submission

From GeneDx, SCV005078535.1

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

Description

Identified with a second RPL3L variant in patients with neonatal-onset dilated cardiomyopathy referred for genetic testing at GeneDx and in published literature (PMID: 35323613); Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; This variant is associated with the following publications: (PMID: 35323613)

#	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: Jul 23, 2024

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