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NM_001019.5(RPS15A):c.213G>A (p.Lys71=) AND Diamond-Blackfan anemia 20

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 6, 2021
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:
RCV000754827.2

Allele description [Variation Report for NM_001019.5(RPS15A):c.213G>A (p.Lys71=)]

NM_001019.5(RPS15A):c.213G>A (p.Lys71=)

Gene:
RPS15A:ribosomal protein S15a [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p12.3
Genomic location:
Preferred name:
NM_001019.5(RPS15A):c.213G>A (p.Lys71=)
HGVS:
  • NC_000016.10:g.18788063C>T
  • NM_001019.5:c.213G>AMANE SELECT
  • NM_001030009.2:c.213G>A
  • NP_001010.2:p.Lys71=
  • NP_001025180.1:p.Lys71=
  • NC_000016.9:g.18799385C>T
  • NM_001019.4:c.213G>A
Links:
OMIM: 603674.0001; dbSNP: rs1567287990
NCBI 1000 Genomes Browser:
rs1567287990
Molecular consequence:
  • NM_001019.5:c.213G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001030009.2:c.213G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Diamond-Blackfan anemia 20 (DBA20)
Identifiers:
MONDO: MONDO:0032670; MedGen: C5193022; OMIM: 618313

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000882708OMIM
no assertion criteria provided
Pathogenic
(Apr 6, 2021) 		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

Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia.

Ikeda F, Yoshida K, Toki T, Uechi T, Ishida S, Nakajima Y, Sasahara Y, Okuno Y, Kanezaki R, Terui K, Kamio T, Kobayashi A, Fujita T, Sato-Otsubo A, Shiraishi Y, Tanaka H, Chiba K, Muramatsu H, Kanno H, Ohga S, Ohara A, Kojima S, et al.

Haematologica. 2017 Mar;102(3):e93-e96. doi: 10.3324/haematol.2016.153932. Epub 2016 Dec 1. No abstract available.

PubMed [citation]
PMID:
27909223
PMCID:
PMC5394974

Details of each submission

From OMIM, SCV000882708.2

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

Description

In a mother and her 2 daughters with Diamond-Blackfan anemia-20 (DBA20; 618313), Ikeda et al. (2017) identified a heterozygous c.213G-A transition (c.213G-A, NM_001019.4) in the last nucleotide of exon 3 of the RPS15A gene that, although a synonymous change (K71K), was demonstrated to cause abnormal splicing, with deletion of the third exon, loss of function, and haploinsufficiency. The mutation, which was found by whole-exome sequencing and confirmed by direct sequencing, segregated with the disorder in the family. It was not found in the ExAC database. Expression of the mutation in human erythroid K562 cells showed that it suppressed cell proliferation and caused abnormal levels of several pre-rRNA subunits, indicating disturbed RNA processing. The family was 1 of 141 families in the cohort, thus accounting for 0.7%.

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

Last Updated: Apr 23, 2022