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NM_000969.5(RPL5):c.173del (p.Arg58fs) AND Diamond-Blackfan anemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 11, 2022
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:
RCV002664165.9

Allele description

NM_000969.5(RPL5):c.173del (p.Arg58fs)

Genes:
DIPK1A:divergent protein kinase domain 1A [Gene - OMIM - HGNC]
RPL5:ribosomal protein L5 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p22.1
Genomic location:
Preferred name:
NM_000969.5(RPL5):c.173del (p.Arg58fs)
HGVS:
  • NC_000001.11:g.92833644del
  • NG_011779.2:g.6659del
  • NG_033051.1:g.132879del
  • NM_000969.5:c.173delMANE SELECT
  • NM_001252273.2:c.475-610del
  • NP_000960.2:p.Arg58fs
  • LRG_1155t1:c.173del
  • LRG_1155:g.6659del
  • LRG_1155p1:p.Arg58fs
  • NC_000001.10:g.93299201del
  • NR_146333.1:n.302del
Protein change:
R58fs
Molecular consequence:
  • NM_000969.5:c.173del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001252273.2:c.475-610del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_146333.1:n.302del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Diamond-Blackfan anemia
Synonyms:
Blackfan Diamond syndrome; Anemia congenital erythroid hypoplastic; Aregenerative anemia chronic congenital; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015253; MeSH: D029503; MedGen: C1260899; Orphanet: 124; OMIM: PS105650; Human Phenotype Ontology: HP:0004810

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003522763Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Apr 11, 2022) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.

Quarello P, Garelli E, Carando A, Brusco A, Calabrese R, Dufour C, Longoni D, Misuraca A, Vinti L, Aspesi A, Biondini L, Loreni F, Dianzani I, Ramenghi U.

Haematologica. 2010 Feb;95(2):206-13. doi: 10.3324/haematol.2009.011783. Epub 2009 Sep 22.

PubMed [citation]
PMID:
19773262
PMCID:
PMC2817022

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.

Gazda HT, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Schneider H, Darras N, Hasman C, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Zaucha JM, Glader B, Niemeyer C, Meerpohl JJ, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH.

Am J Hum Genet. 2008 Dec;83(6):769-80. doi: 10.1016/j.ajhg.2008.11.004.

PubMed [citation]
PMID:
19061985
PMCID:
PMC2668101
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV003522763.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Arg58Lysfs*12) in the RPL5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPL5 are known to be pathogenic (PMID: 19061985, 19773262). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of Diamond-Blackfan anemia (PMID: 19061985). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 16, 2024