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NM_001029.5(RPS26):c.9_12del (p.Lys4fs) AND Diamond-Blackfan anemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 31, 2017
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:
RCV002377582.3

Allele description [Variation Report for NM_001029.5(RPS26):c.9_12del (p.Lys4fs)]

NM_001029.5(RPS26):c.9_12del (p.Lys4fs)

Gene:
RPS26:ribosomal protein S26 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q13.2
Genomic location:
Preferred name:
NM_001029.5(RPS26):c.9_12del (p.Lys4fs)
HGVS:
  • NC_000012.12:g.56042430_56042433del
  • NG_023201.1:g.5529_5532del
  • NM_001029.5:c.9_12delMANE SELECT
  • NP_001020.2:p.Lys4fs
  • LRG_1146t1:c.9_12del
  • LRG_1146:g.5529_5532del
  • LRG_1146p1:p.Lys4fs
  • NC_000012.11:g.56436211_56436214del
  • NC_000012.11:g.56436214_56436217del
  • NM_001029.3:c.9_12delGAAA
Protein change:
K4fs
Links:
dbSNP: rs2136753785
NCBI 1000 Genomes Browser:
rs2136753785
Molecular consequence:
  • NM_001029.5:c.9_12del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002685063Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Mar 31, 2017) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update.

Pospisilova D, Cmejlova J, Ludikova B, Stary J, Cerna Z, Hak J, Timr P, Petrtylova K, Blatny J, Vokurka S, Cmejla R.

Blood Cells Mol Dis. 2012 Apr 15;48(4):209-18. doi: 10.1016/j.bcmd.2012.02.002. Epub 2012 Mar 3.

PubMed [citation]
PMID:
22381658

Details of each submission

From Ambry Genetics, SCV002685063.2

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

Description

The c.9_12delGAAA pathogenic mutation, located in coding exon 2 of the RPS26 gene, results from a deletion of 4 nucleotides at nucleotide positions 9 to 12, causing a translational frameshift with a predicted alternate stop codon (p.K4Efs*40). This mutation was identified in one Czech individual with Diamond-Blackfan anemia (Pospisilova D et al. Blood Cells Mol. Dis., 2012 Apr;48:209-18). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Sep 29, 2024