NM_001029.5(RPS26):c.259C>T (p.Arg87Ter) AND Diamond-Blackfan anemia 10

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jul 3, 2019
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:: RCV000167574.12

Allele description [Variation Report for NM_001029.5(RPS26):c.259C>T (p.Arg87Ter)]

NM_001029.5(RPS26):c.259C>T (p.Arg87Ter)

Gene:

RPS26:ribosomal protein S26 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.2

Genomic location:

Preferred name:

NM_001029.5(RPS26):c.259C>T (p.Arg87Ter)

Other names:

RPS26, ARG87TER (rs148942765)

HGVS:

NC_000012.12:g.56043440C>T
NG_023201.1:g.6539C>T
NM_001029.5:c.259C>TMANE SELECT
NP_001020.2:p.Arg87Ter
LRG_1146t1:c.259C>T
LRG_1146:g.6539C>T
LRG_1146p1:p.Arg87Ter
NC_000012.11:g.56437224C>T
NM_001029.3:c.259C>T

Protein change:

R87*; ARG87TER

Links:

OMIM: 603701.0007; dbSNP: rs148942765

NCBI 1000 Genomes Browser:

rs148942765

Molecular consequence:

NM_001029.5:c.259C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Diamond-Blackfan anemia 10 (DBA10)
Identifiers:: MONDO: MONDO:0013217; MedGen: C2750080; Orphanet: 124; OMIM: 613309

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000218454	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 2014)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 24942156, 19816270
SCV001410055	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 3, 2019)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 20116044, 23718193, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000218454

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 2014)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

SCV001410055

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 3, 2019)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.

Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX; UW Center for Mendelian Genomics., Pilchman L, Sahraoui R, Stabley DL, Sol-Church K.

Am J Med Genet A. 2014 Sep;164A(9):2240-9. doi: 10.1002/ajmg.a.36633. Epub 2014 Jun 18.

PubMed [citation]

PMID:: 24942156
PMCID:: PMC4149220

Curvilinear mandibular distraction in a patient with mandibulofacial dysostosis associated with Diamond-Blackfan anemia.

Handler MZ, Alabi O, Miller J.

J Craniofac Surg. 2009 Sep;20(5):1417-9. doi: 10.1097/SCS.0b013e3181aee34e.

PubMed [citation]

PMID:: 19816270

See all PubMed Citations (5)

Details of each submission

From OMIM, SCV000218454.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In 3 members of a family (family 2) with Diamond-Blackfan anemia-10 (DBA10; 613309), Gripp et al. (2014) identified a heterozygous c.259C-T transition in the RPS26 gene, resulting in an arg87-to-ter (R87X) substitution. The proband had been reported by Handler et al. (2009). The mutation, which was found by sequencing of candidate ribosomal protein genes, segregated with the disorder in the family. The mutation was found in the dbSNP database (rs148942765) but not in the 1000 Genomes Project or Exome Sequencing Project databases. In addition to DBA, the proband also had mandibulofacial dysostosis, thus expanding the phenotype associated with DBA10. Functional studies of the variant were not performed.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Invitae, SCV001410055.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

Loss-of-function variants in RPS26 are known to be pathogenic (PMID: 20116044, 23718193). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in an individual affected with Diamond-Blackfan anaemia (PMID: 23718193). ClinVar contains an entry for this variant (Variation ID: 187849). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg87*) in the RPS26 gene. It is expected to result in an absent or disrupted protein product.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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