NM_001022.4(RPS19):c.280C>T (p.Arg94Ter) AND Diamond-Blackfan anemia 1

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Apr 4, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000033182.10

Allele description [Variation Report for NM_001022.4(RPS19):c.280C>T (p.Arg94Ter)]

NM_001022.4(RPS19):c.280C>T (p.Arg94Ter)

Gene:

RPS19:ribosomal protein S19 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_001022.4(RPS19):c.280C>T (p.Arg94Ter)

HGVS:

NC_000019.10:g.41869138C>T
NG_007080.3:g.14221C>T
NM_001022.4:c.280C>TMANE SELECT
NM_001321483.2:c.280C>T
NM_001321484.2:c.280C>T
NM_001321485.2:c.293C>T
NP_001013.1:p.Arg94Ter
NP_001308412.1:p.Arg94Ter
NP_001308413.1:p.Arg94Ter
NP_001308414.1:p.Pro98Leu
LRG_1144t1:c.280C>T
LRG_1144:g.14221C>T
LRG_1144p1:p.Arg94Ter
NC_000019.9:g.42373208C>T
NM_001022.3:c.280C>T

Protein change:

P98L; ARG94TER

Links:

OMIM: 603474.0001; dbSNP: rs61762293

NCBI 1000 Genomes Browser:

rs61762293

Molecular consequence:

NM_001321485.2:c.293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001022.4:c.280C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001321483.2:c.280C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001321484.2:c.280C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Diamond-Blackfan anemia 1 (DBA1)
Identifiers:: MONDO: MONDO:0007110; MedGen: C2676137; Orphanet: 124; OMIM: 105650

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000057018	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 1999)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV002019902	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 31, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004810387	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 4, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000057018

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 1999)

germline

literature only

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

SCV002019902

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 31, 2020)

germline

clinical testing

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

SCV004810387

Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 4, 2024)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.

Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, Dianzani I, Ball S, Tchernia G, Klar J, Matsson H, Tentler D, Mohandas N, Carlsson B, Dahl N.

Nat Genet. 1999 Feb;21(2):169-75.

PubMed [citation]

PMID:: 9988267

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From OMIM, SCV000057018.2

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

Description

In 2 sisters and their mother with Diamond-Blackfan anemia (DBA1; 105650), Draptchinskaia et al. (1999) found a heterozygous C-to-T transition in the RPS19 gene causing an arg94-to-ter (R94X) substitution. The sisters were discordant for associated malformations: one of them presented with limb malformations and duplicated ureter, whereas the other had congenital glaucoma. The mother had normal hemoglobin levels and no malformations.

#	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 Revvity Omics, Revvity, SCV002019902.3

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

#	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

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004810387.1

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

#	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 16, 2024

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