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NM_005061.3(RPL3L):c.922G>A (p.Asp308Asn) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 28, 2023
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:
RCV003106226.3

Allele description [Variation Report for NM_005061.3(RPL3L):c.922G>A (p.Asp308Asn)]

NM_005061.3(RPL3L):c.922G>A (p.Asp308Asn)

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.922G>A (p.Asp308Asn)
HGVS:
  • NC_000016.10:g.1946654C>T
  • NM_005061.3:c.922G>AMANE SELECT
  • NP_005052.1:p.Asp308Asn
  • NC_000016.9:g.1996655C>T
  • NM_005061.2:c.922G>A
Protein change:
D308N; ASP308ASN
Links:
OMIM: 617416.0003; dbSNP: rs771732216
NCBI 1000 Genomes Browser:
rs771732216
Molecular consequence:
  • NM_005061.3:c.922G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003762029GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jan 28, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV003762029.2

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27535533, 35323613, 36291431, 32514796)

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

Last Updated: Dec 24, 2023