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NM_000979.4(RPL18):c.152T>C (p.Leu51Ser) AND Diamond-Blackfan anemia 18

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 6, 2019
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:
RCV000754828.1

Allele description [Variation Report for NM_000979.4(RPL18):c.152T>C (p.Leu51Ser)]

NM_000979.4(RPL18):c.152T>C (p.Leu51Ser)

Gene:
RPL18:ribosomal protein L18 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_000979.4(RPL18):c.152T>C (p.Leu51Ser)
HGVS:
  • NC_000019.10:g.48617362A>G
  • NG_029867.1:g.3072A>G
  • NM_000979.4:c.152T>CMANE SELECT
  • NM_001270490.2:c.65T>C
  • NP_000970.1:p.Leu51Ser
  • NP_001257419.1:p.Leu22Ser
  • NC_000019.9:g.49120619A>G
  • NM_000979.3:c.152T>C
  • NR_073022.2:n.179T>C
Protein change:
L22S; LEU51SER
Links:
OMIM: 604179.0001; dbSNP: rs1568425218
NCBI 1000 Genomes Browser:
rs1568425218
Molecular consequence:
  • NM_000979.4:c.152T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270490.2:c.65T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_073022.2:n.179T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Diamond-Blackfan anemia 18 (DBA18)
Identifiers:
MONDO: MONDO:0032668; MedGen: C5193020; OMIM: 618310

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000882709OMIM
no assertion criteria provided
Pathogenic
(Feb 6, 2019) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.

Mirabello L, Khincha PP, Ellis SR, Giri N, Brodie S, Chandrasekharappa SC, Donovan FX, Zhou W, Hicks BD, Boland JF, Yeager M, Jones K, Zhu B, Wang M, Alter BP, Savage SA.

J Med Genet. 2017 Jun;54(6):417-425. doi: 10.1136/jmedgenet-2016-104346. Epub 2017 Mar 9.

PubMed [citation]
PMID:
28280134

Details of each submission

From OMIM, SCV000882709.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a father and son (family NCI-172) with Diamond-Blackfan anemia-18 (DBA18; 618310), Mirabello et al. (2017) identified a heterozygous mutation in the RPL18 gene (g.49120619T-C, GRCh37) resulting in a leu51-to-ser (L51S) substitution. The mutation, which was found by whole-exome sequencing, was not found in the 1000 Genomes Project, Exome Variant Server, or ExAC databases. Analysis of pre-rRNA processing in patient cells showed an increase in the 36S subunit compared to controls, indicating a defect in pre-rRNA processing. The patients were part of a cohort of 87 families with a similar disorder who underwent genetic analysis; mutations in known DBA-associated genes were excluded in the family.

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

Last Updated: Apr 23, 2022