NM_001022.4(RPS19):c.250A>T (p.Arg84Ter) AND Diamond-Blackfan anemia 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 1999
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:: RCV000033185.4

Allele description [Variation Report for NM_001022.4(RPS19):c.250A>T (p.Arg84Ter)]

NM_001022.4(RPS19):c.250A>T (p.Arg84Ter)

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.250A>T (p.Arg84Ter)

HGVS:

NC_000019.10:g.41869108A>T
NG_007080.3:g.14191A>T
NM_001022.4:c.250A>TMANE SELECT
NM_001321483.2:c.250A>T
NM_001321484.2:c.250A>T
NM_001321485.2:c.263A>T
NP_001013.1:p.Arg84Ter
NP_001308412.1:p.Arg84Ter
NP_001308413.1:p.Arg84Ter
NP_001308414.1:p.Glu88Val
LRG_1144t1:c.250A>T
LRG_1144:g.14191A>T
LRG_1144p1:p.Arg84Ter
NC_000019.9:g.42373178A>T

Protein change:

E88V; ARG84TER

Links:

OMIM: 603474.0004; dbSNP: rs121908649

NCBI 1000 Genomes Browser:

rs121908649

Molecular consequence:

NM_001321485.2:c.263A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001022.4:c.250A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001321483.2:c.250A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001321484.2:c.250A>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
SCV000057021	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 1999)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000057021

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 1999)

germline

literature only

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

Citations

PubMed

Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia.

Matsson H, Klar J, Draptchinskaia N, Gustavsson P, Carlsson B, Bowers D, de Bont E, Dahl N.

Hum Genet. 1999 Nov;105(5):496-500.

PubMed [citation]

PMID:: 10598818

Details of each submission

From OMIM, SCV000057021.3

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

Description

In a patient with Diamond-Blackfan anemia (105650), Matsson et al. (1999) identified a heterozygous 302C-T transition in the RPS19 gene, resulting in an arg84-to-ter (R84X) substitution.

#	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

Last Updated: Apr 23, 2022

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