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NM_001014.5(RPS10):c.260dup (p.Glu88fs) AND Diamond-Blackfan anemia 9

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 12, 2010
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:
RCV000006563.3

Allele description [Variation Report for NM_001014.5(RPS10):c.260dup (p.Glu88fs)]

NM_001014.5(RPS10):c.260dup (p.Glu88fs)

Genes:
RPS10-NUDT3:RPS10-NUDT3 readthrough [Gene - HGNC]
RPS10:ribosomal protein S10 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6p21.31
Genomic location:
Preferred name:
NM_001014.5(RPS10):c.260dup (p.Glu88fs)
HGVS:
  • NC_000006.12:g.34424735dup
  • NG_023200.1:g.6369dup
  • NM_001014.5:c.260dupMANE SELECT
  • NM_001202470.3:c.260dup
  • NM_001203245.3:c.260dup
  • NM_001204091.2:c.260dup
  • NP_001005.1:p.Glu88fs
  • NP_001189399.1:p.Glu88fs
  • NP_001190174.1:p.Glu88fs
  • NP_001191020.1:p.Glu88fs
  • LRG_1138t1:c.260dup
  • LRG_1138:g.6369dup
  • LRG_1138p1:p.Glu88fs
  • NC_000006.11:g.34392512dup
  • NM_001014.4:c.260dupC
Note:
ClinGen staff contributed the HGVS expression for this variant.
Protein change:
E88fs
Links:
OMIM: 603632.0002; dbSNP: rs1581931541
NCBI 1000 Genomes Browser:
rs1581931541
Molecular consequence:
  • NM_001014.5:c.260dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001202470.3:c.260dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001203245.3:c.260dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001204091.2:c.260dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Diamond-Blackfan anemia 9 (DBA9)
Identifiers:
MONDO: MONDO:0013216; MedGen: C2750081; Orphanet: 124; OMIM: 613308

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000026746OMIM
no assertion criteria provided
Pathogenic
(Feb 12, 2010) 		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

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.

Doherty L, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Clinton C, Schneider HE, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Glader B, Arceci RJ, Farrar JE, Atsidaftos E, Lipton JM, Gleizes PE, Gazda HT.

Am J Hum Genet. 2010 Feb 12;86(2):222-8. doi: 10.1016/j.ajhg.2009.12.015. Epub 2010 Jan 28. Erratum in: Am J Hum Genet. 2010 Apr 9;86(4):655.

PubMed [citation]
PMID:
20116044
PMCID:
PMC2820177

Details of each submission

From OMIM, SCV000026746.2

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

Description

In a female patient who was diagnosed with Diamond-Blackfan anemia (613308) at 2 months of age, Doherty et al. (2010) identified heterozygosity for a 1-bp insertion (260insC) in exon 3 of the RPS10 gene, resulting in a frameshift and a premature termination codon. The mutation was not found in her unaffected father or in at least 520 control chromosomes.

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

Last Updated: Sep 1, 2024