NM_033022.4(RPS24):c.292G>T (p.Glu98Ter) AND Diamond-Blackfan anemia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 24, 2023
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:: RCV003507638.2

Allele description [Variation Report for NM_033022.4(RPS24):c.292G>T (p.Glu98Ter)]

NM_033022.4(RPS24):c.292G>T (p.Glu98Ter)

Gene:

RPS24:ribosomal protein S24 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.3

Genomic location:

Preferred name:

NM_033022.4(RPS24):c.292G>T (p.Glu98Ter)

HGVS:

NC_000010.11:g.78037206G>T
NG_012633.1:g.8447G>T
NM_001026.5:c.292G>T
NM_001142282.2:c.292G>T
NM_001142283.2:c.292G>T
NM_001142284.2:c.292G>T
NM_001142285.2:c.292G>T
NM_033022.4:c.292G>TMANE SELECT
NP_001017.1:p.Glu98Ter
NP_001135754.1:p.Glu98Ter
NP_001135755.1:p.Glu98Ter
NP_001135756.1:p.Glu98Ter
NP_001135757.1:p.Glu98Ter
NP_148982.1:p.Glu98Ter
LRG_1145t1:c.292G>T
LRG_1145t2:c.292G>T
LRG_1145t3:c.292G>T
LRG_1145:g.8447G>T
LRG_1145p1:p.Glu98Ter
LRG_1145p2:p.Glu98Ter
LRG_1145p3:p.Glu98Ter
NC_000010.10:g.79796964G>T

Protein change:

E98*

Molecular consequence:

NM_001026.5:c.292G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001142282.2:c.292G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001142283.2:c.292G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001142284.2:c.292G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001142285.2:c.292G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_033022.4:c.292G>T - nonsense - [Sequence Ontology: SO:0001587]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004252675	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 24, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 17186470, 20960466, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004252675

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 24, 2023)

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

Citations

PubMed

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.

Gazda HT, Grabowska A, Merida-Long LB, Latawiec E, Schneider HE, Lipton JM, Vlachos A, Atsidaftos E, Ball SE, Orfali KA, Niewiadomska E, Da Costa L, Tchernia G, Niemeyer C, Meerpohl JJ, Stahl J, Schratt G, Glader B, Backer K, Wong C, Nathan DG, Beggs AH, et al.

Am J Hum Genet. 2006 Dec;79(6):1110-8. Epub 2006 Nov 2.

PubMed [citation]

PMID:: 17186470
PMCID:: PMC1698708

The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.

Boria I, Garelli E, Gazda HT, Aspesi A, Quarello P, Pavesi E, Ferrante D, Meerpohl JJ, Kartal M, Da Costa L, Proust A, Leblanc T, Simansour M, Dahl N, Fröjmark AS, Pospisilova D, Cmejla R, Beggs AH, Sheen MR, Landowski M, Buros CM, Clinton CM, et al.

Hum Mutat. 2010 Dec;31(12):1269-79. doi: 10.1002/humu.21383.

PubMed [citation]

PMID:: 20960466
PMCID:: PMC4485435

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004252675.1

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

Description

This sequence change creates a premature translational stop signal (p.Glu98*) in the RPS24 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPS24 are known to be pathogenic (PMID: 17186470, 20960466). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RPS24-related conditions. For these reasons, this variant has been classified as Pathogenic.

#	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: Sep 29, 2024

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